Q9Y345
PR
Gene name |
SLC6A5 (GLYT2, NET1) |
Protein name |
Sodium- and chloride-dependent glycine transporter 2 |
Names |
GlyT-2, GlyT2, Solute carrier family 6 member 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9152 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y345
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y345-F1 | Predicted | AlphaFoldDB |
742 variants for Q9Y345
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001857938 CA5920975 RCV000522358 rs752254977 |
3 | C>* | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779942621 CA5920983 RCV001341156 |
18 | E>Q | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000382839 CA5920986 RCV001764270 RCV001245247 rs200496125 |
20 | A>V | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000288143 rs770663979 CA5920989 |
26 | P>L | Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5920994 RCV000352386 RCV001850612 rs527326906 |
32 | P>L | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs867252696 RCV001222051 CA218722464 |
33 | R>T | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5921005 rs755131121 RCV000312706 RCV001246406 |
45 | A>G | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5921008 RCV000438727 RCV001080236 RCV000349052 rs12364685 |
46 | P>R | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA379911273 RCV001972589 RCV002225954 rs1474968844 |
63 | Q>* | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768245472 RCV001350288 CA379911326 |
65 | A>E | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001231808 rs766483394 CA5921021 |
81 | K>R | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5921025 RCV000455628 VAR_044163 RCV000300040 rs61736602 RCV000602465 |
89 | A>E | Hyperekplexia 3 Hyperekplexia no effect on subcellular location; no effect on glycine transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel rs768440032 RCV001204245 |
100 | A>V | Hyperekplexia 3 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
VAR_044164 CA5921035 rs1443547 RCV001512212 RCV000354866 |
102 | G>S | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1852473995 RCV001045223 |
103 | A>T | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000031925 rs281864923 |
108 | P>missing | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746842267 CA5921049 RCV001312271 |
114 | P>S | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001653494 RCV000960568 CA5921052 rs61736604 RCV000360174 |
116 | N>S | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002056191 rs201319465 CA5921059 RCV000320363 |
119 | H>R | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_044165 rs1443548 RCV000365666 RCV000988496 CA5921061 |
124 | F>S | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs34243519 VAR_044166 CA5921072 RCV000271019 RCV000650381 |
132 | A>G | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10638709 RCV000326120 rs886048108 |
149 | V>L | Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_044167 RCV000381210 RCV000988497 CA5921091 rs1443549 |
162 | A>G | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61736603 CA5921093 COSM3687228 RCV000650382 RCV000296115 |
167 | T>K | Hyperekplexia 3 large_intestine Hyperekplexia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138199033 RCV001090236 RCV002554810 CA5921129 CA5921130 |
182 | D>E | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC gnomAD ClinVar dbSNP |
|
CA5921135 rs376783257 RCV000702191 |
191 | R>* | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002531959 CA5921176 rs371265931 RCV000650377 |
228 | A>D | Hyperekplexia 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10634367 RCV000386966 rs886048109 |
268 | A>T | Variant assessed as Somatic; impact. Hyperekplexia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs778603956 RCV000814781 CA5921204 |
270 | Q>* | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16621617 RCV002525988 RCV000488116 rs887898848 |
284 | A>T | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000006121 CA340456 VAR_044168 rs121908496 |
306 | L>V | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA5921255 COSM2112208 rs150764554 RCV000292425 RCV000891928 |
317 | T>M | Hyperekplexia 3 breast Hyperekplexia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000006117 CA340450 rs121908493 |
377 | Y>* | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1852809256 RCV001345058 |
378 | F>S | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002520714 RCV000803779 CA5921341 rs140296233 RCV000399414 |
390 | G>V | Hyperekplexia 3 Inborn genetic diseases Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752068841 RCV001326210 CA5921344 |
391 | E>K | Variant assessed as Somatic; 0.0 impact. Hyperekplexia 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_044169 CA340458 RCV000006123 rs121908498 |
425 | T>M | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) HKPX3; no effect on subcellular location; impairs glycine transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs375955428 CA5921395 RCV000343092 RCV001850613 RCV002522194 |
426 | A>G | Hyperekplexia 3 Hyperekplexia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745539706 CA5921398 VAR_082588 |
429 | P>L | HKPX3; impairs glycine transport; no effect on subcellular location [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001212444 rs745539706 |
429 | P>Q | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000303323 rs886048110 CA10634368 |
430 | Y>N | Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281864924 RCV000006118 |
432 | V>missing | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142573911 CA5921404 RCV001784989 |
439 | R>* | Variant assessed as Somatic; 0.0 impact. Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs552955627 CA5921411 RCV001329824 |
449 | G>E | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_044170 CA5921415 RCV000358141 RCV001520556 rs3740870 RCV001690007 |
457 | K>N | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001636867 rs1805091 VAR_011592 CA5921420 RCV001520557 RCV000393595 |
463 | D>N | Hyperekplexia 3 Hyperekplexia no effect on glycine transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_044171 | 482 | W>C | HKPX3; no effect on subcellular location; impairs glycine transport [UniProt] | Yes | UniProt |
|
CA343002 RCV000031924 rs281864925 |
482 | W>R | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000006119 VAR_044172 rs121908494 CA340453 |
491 | Y>C | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) HKPX3; no effect on subcellular location; impairs glycine transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000947334 VAR_044173 rs7944684 CA5921461 RCV000364083 |
499 | Y>F | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_044174 CA340457 RCV000006122 rs121908497 |
509 | N>S | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000024247 rs281864926 CA342798 VAR_044175 |
510 | S>R | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) HKPX3; results in the formation of large aggregates in the cytoplasm; loss of glycine transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs755306577 CA5921509 RCV000370006 |
529 | N>H | Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5921539 RCV002281121 RCV000650379 rs772652517 |
547 | F>S | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1853207207 RCV001227744 |
556 | R>S | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368756114 RCV001037295 |
579 | M>L | Hyperekplexia 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761723711 CA5921557 RCV000684961 |
579 | M>T | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142895058 CA5921587 RCV001059876 |
616 | M>V | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000006120 rs121908495 CA340454 |
630 | Q>* | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812719 CA379918649 rs770169307 |
637 | A>V | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000705285 rs753023936 RCV001772004 CA218746131 |
638 | S>F | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5921663 RCV000374997 rs562578394 RCV002056194 |
676 | F>V | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA5921696 RCV001702077 rs143918578 VAR_087307 RCV000988498 |
705 | Y>C | Hyperekplexia 3 Hyperekplexia 3 (hkpx3) mild decrease of glycine transport; Vmax of the mutant is reduced to 60% compared to wild-type; decreased expression at the cell surface [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5921698 RCV000287316 rs751861245 |
707 | S>P | Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5921710 RCV001062276 rs749000146 |
723 | A>T | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142855098 RCV001336651 RCV000342278 CA5921719 |
729 | I>T | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376060015 RCV002520715 RCV000401148 CA5921722 |
738 | H>Q | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141654146 CA5921759 RCV000703714 |
766 | R>C | Hyperekplexia 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000347972 rs767356503 CA5921761 RCV003165823 RCV001850614 |
766 | R>H | Hyperekplexia 3 Inborn genetic diseases Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_044176 COSM182773 rs16906628 CA5921763 RCV001518345 RCV000407323 |
767 | G>R | Hyperekplexia 3 large_intestine Hyperekplexia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001726101 rs75450512 RCV000947335 RCV000308486 COSM1353185 CA5921767 |
769 | R>H | Hyperekplexia 3 large_intestine Hyperekplexia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs543307278 CA5921777 RCV000344607 RCV000898529 |
789 | K>R | Hyperekplexia 3 Hyperekplexia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1479141378 CA379910432 |
4 | S>R | No |
ClinGen TOPMed |
|
|
rs1177507613 CA379910458 |
6 | P>T | No |
ClinGen gnomAD |
|
|
rs1455715428 CA379910471 |
7 | K>E | No |
ClinGen gnomAD |
|
|
CA379910497 rs1345736009 |
8 | E>D | No |
ClinGen gnomAD |
|
|
CA379910510 rs1407334436 |
9 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1432862969 CA379910520 |
10 | N>Y | No |
ClinGen gnomAD |
|
|
CA379910544 rs1590151379 |
11 | K>N | No |
ClinGen Ensembl |
|
|
rs754224312 CA5920978 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754224312 CA218722438 |
13 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779446341 CA379910595 |
15 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5920982 rs758653744 |
17 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA379910623 rs758653744 |
17 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA218722444 rs868471657 |
18 | E>G | No |
ClinGen Ensembl |
|
|
rs1590151410 CA379910650 |
19 | A>V | No |
ClinGen Ensembl |
|
|
rs1218608422 CA379910667 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA379910710 rs1490292313 |
24 | G>R | No |
ClinGen gnomAD |
|
|
rs1200514667 CA379910723 |
25 | H>Y | No |
ClinGen gnomAD |
|
|
rs749057466 CA5920988 |
26 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759042080 CA218722458 |
28 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759042080 CA5920991 |
28 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5920992 rs767211408 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186704689 CA5920993 |
30 | C>* | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1459255112 CA379910789 |
30 | C>G | No |
ClinGen TOPMed |
|
|
CA379910805 rs1304691281 |
31 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 32 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 33 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754348968 CA5920996 |
34 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs754348968 CA379910844 |
34 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5920998 rs765635368 |
35 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359298397 CA379910857 |
35 | S>R | No |
ClinGen gnomAD |
|
|
rs1482258987 CA379910923 |
41 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379910930 rs1233650550 |
42 | A>P | No |
ClinGen gnomAD |
|
|
CA5921000 rs750833001 |
42 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921002 rs758538379 |
43 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5921004 rs751560225 |
45 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755131121 CA5921006 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218722484 rs959899022 |
46 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs12364685 CA379910970 |
46 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379910958 rs959899022 |
46 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1361587450 CA379911018 |
50 | R>C | No |
ClinGen TOPMed |
|
|
rs1445215942 CA379911023 |
50 | R>L | No |
ClinGen gnomAD |
|
|
rs1445215942 CA379911020 |
50 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379911050 rs1382857288 |
52 | P>T | No |
ClinGen gnomAD |
|
|
rs1317770406 CA379911067 |
53 | R>G | No |
ClinGen gnomAD |
|
|
rs771594750 CA5921012 |
55 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1273984815 CA379911130 |
56 | S>P | No |
ClinGen gnomAD |
|
|
CA5921013 rs539354561 |
57 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1445282447 CA379911178 |
59 | A>T | No |
ClinGen gnomAD |
|
|
rs1185416798 CA379911193 |
59 | A>V | No |
ClinGen gnomAD |
|
|
CA379911214 rs1262270985 |
60 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA218722494 rs914173347 |
60 | Q>R | No |
ClinGen Ensembl |
|
|
rs1294000272 CA379911251 |
62 | F>S | No |
ClinGen TOPMed |
|
|
CA379911246 rs1484910232 |
62 | F>V | No |
ClinGen TOPMed |
|
|
rs1168242399 CA379911282 |
63 | Q>L | No |
ClinGen gnomAD |
|
|
CA379911309 rs1421234022 |
64 | S>L | No |
ClinGen gnomAD |
|
|
CA5921015 rs768245472 |
65 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379911347 rs1454104001 |
66 | D>E | No |
ClinGen gnomAD |
|
|
CA5921016 rs776289389 |
66 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5921017 rs762355599 |
67 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218722502 rs909214394 |
68 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA218722504 rs868620872 |
68 | R>L | No |
ClinGen gnomAD |
|
|
CA379911380 rs868620872 |
68 | R>Q | No |
ClinGen gnomAD |
|
|
CA218722507 rs945569830 |
69 | A>G | No |
ClinGen Ensembl |
|
|
CA379911423 rs1341887820 |
70 | C>* | No |
ClinGen gnomAD |
|
|
COSM1604427 CA379911406 rs1590151668 |
70 | C>S | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 71 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379911507 rs1318196803 |
74 | R>Q | No |
ClinGen TOPMed |
|
|
CA5921019 rs750746291 |
74 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA379911527 rs1461875336 |
75 | P>L | No |
ClinGen gnomAD |
|
|
rs1381056778 CA379911517 |
75 | P>S | No |
ClinGen TOPMed |
|
|
CA379911570 rs1246149718 |
78 | G>R | No |
ClinGen gnomAD |
|
|
rs763412704 CA5921020 |
79 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462965582 CA379911670 |
84 | S>I | No |
ClinGen gnomAD |
|
|
CA5921022 rs751752571 |
85 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218722520 rs751752571 |
85 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175335711 CA379911685 |
85 | P>S | No |
ClinGen gnomAD |
|
|
rs1383470600 COSM925912 CA379911716 |
87 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA379911759 rs1282899778 |
90 | A>T | No |
ClinGen gnomAD |
|
|
rs752225272 CA5921028 |
90 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379911773 rs374487200 |
91 | S>P | No |
ClinGen ESP TOPMed |
|
|
rs374487200 CA218722527 |
91 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA379911790 rs1266369282 |
92 | A>V | No |
ClinGen gnomAD |
|
|
rs780331785 CA218722529 |
94 | L>M | No |
ClinGen gnomAD |
|
|
rs779746122 CA5921030 |
95 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379911826 rs779746122 |
95 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379911824 rs779746122 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 95 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746610188 CA5921031 |
96 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768440032 CA5921032 |
100 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA379911896 rs768440032 |
100 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1180414394 CA379911893 |
100 | A>S | No |
ClinGen Ensembl |
|
|
CA379911890 rs1180414394 |
100 | A>T | No |
ClinGen Ensembl |
|
|
rs761485033 CA5921034 |
101 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs773816036 CA5921036 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766722830 CA5921038 |
104 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA218722541 rs764784175 |
106 | S>W | No |
ClinGen TOPMed |
|
|
rs759697015 CA379911975 |
108 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3670740 rs759697015 CA5921040 |
108 | P>R | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774582809 CA379911972 |
108 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774582809 CA5921039 |
108 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218722546 rs905521470 |
109 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1047520534 CA218722552 CA379911982 |
110 | G>R | No |
ClinGen gnomAD |
|
|
rs752743905 CA5921042 |
111 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921047 rs779843653 |
113 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921046 rs750336593 CA5921045 COSM1703704 |
113 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746842267 CA5921048 |
114 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149308421 CA5921051 |
115 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772625922 CA5921053 |
116 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs749736055 CA5921054 |
117 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379912022 rs1223471562 |
117 | A>V | No |
ClinGen TOPMed |
|
|
rs2241941 CA5921058 |
118 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379912043 rs1296678582 |
121 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1395952876 CA379912049 |
121 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 121 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379912067 rs1443548 |
124 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379912069 rs1423037823 |
124 | F>L | No |
ClinGen TOPMed |
|
|
CA379912066 rs1443548 |
124 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758345882 CA5921063 |
126 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA379912077 COSM3375760 rs758345882 |
126 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs751372747 CA5921065 |
127 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921064 rs766298578 |
127 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1364316442 CA379912086 |
128 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781152123 CA5921067 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379912091 rs1565269812 |
129 | E>A | No |
ClinGen Ensembl |
|
|
rs1253511250 CA379912088 |
129 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747760232 CA5921068 |
130 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379912114 rs34243519 |
132 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34243519 CA379912113 COSM925913 |
132 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5921073 rs774770948 |
133 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561866100 CA5921074 |
134 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379912122 rs561866100 |
134 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5921075 rs540902395 |
135 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540902395 CA218722588 |
135 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379912135 rs1451995228 |
136 | V>E | No |
ClinGen gnomAD |
|
|
CA379912137 rs1451995228 |
136 | V>G | No |
ClinGen gnomAD |
|
|
CA5921076 rs372428397 |
136 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384819173 CA379912141 |
137 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5921077 rs140334751 |
138 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5921078 rs144285788 |
140 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147809509 CA5921080 |
141 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA379912170 rs1253870100 |
142 | E>G | No |
ClinGen gnomAD |
|
|
CA379912167 rs1229237976 |
142 | E>Q | No |
ClinGen gnomAD |
|
|
CA379912176 rs1203665299 |
143 | R>L | No |
ClinGen gnomAD |
|
|
CA379912175 rs1460494669 |
143 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5921081 rs766314212 |
144 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA5921083 rs759574943 |
146 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759574943 CA379912197 |
146 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759574943 CA5921084 |
146 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141037254 CA5921086 |
147 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379912200 rs1357356357 |
147 | P>S | No |
ClinGen TOPMed |
|
|
rs200870248 CA218722601 |
150 | G>R | No |
ClinGen 1000Genomes |
|
|
CA379912275 rs1172886210 |
152 | V>G | No |
ClinGen gnomAD |
|
|
CA379912278 rs1565269902 |
153 | N>D | No |
ClinGen Ensembl |
|
|
CA379912297 rs1401298957 |
154 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777354947 CA5921087 |
155 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs753356751 CA5921088 |
155 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs756674127 CA5921089 |
156 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379912331 rs1407381299 |
156 | Q>P | No |
ClinGen TOPMed |
|
|
rs778425949 CA5921090 |
157 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590152118 CA379912333 |
157 | S>R | No |
ClinGen Ensembl |
|
|
rs1428598495 CA379912356 |
159 | V>M | No |
ClinGen gnomAD |
|
|
rs1443549 CA379912389 |
162 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443549 CA379912390 |
162 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772582591 CA5921092 |
163 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA379912450 rs1217156846 |
168 | S>F | No |
ClinGen TOPMed |
|
|
CA379912452 COSM925914 rs1214367394 |
169 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1213892306 CA379912479 |
173 | S>T | No |
ClinGen TOPMed |
|
|
rs768896174 CA5921095 |
174 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM182758 rs768896174 CA5921096 |
174 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1480205783 CA379912496 |
176 | T>N | No |
ClinGen gnomAD |
|
|
rs1431624682 CA379912501 |
177 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399008792 CA379912509 |
178 | A>V | No |
ClinGen gnomAD |
|
|
CA379912521 rs1376721915 |
180 | Q>P | No |
ClinGen TOPMed |
|
|
rs201573037 CA5921126 |
181 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145903059 CA5921127 |
182 | D>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA218723331 rs1036213162 |
183 | E>Q | No |
ClinGen TOPMed |
|
| VAR_011591 | 184 | Q>R | no effect on glycine transport [UniProt] | No | UniProt |
|
CA379912565 rs1181742522 |
185 | G>E | No |
ClinGen gnomAD |
|
|
rs757956308 CA5921131 |
185 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5921132 rs765900929 |
187 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs894782950 CA379912600 |
190 | A>S | No |
ClinGen gnomAD |
|
|
rs894782950 CA218723335 |
190 | A>T | No |
ClinGen gnomAD |
|
|
rs751966244 CA5921133 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376783257 CA379912603 |
191 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142792084 CA5921136 |
193 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012031086 CA218723340 |
193 | N>S | No |
ClinGen gnomAD |
|
|
rs756399367 CA5921137 |
195 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA379912632 rs1453189200 |
195 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1382641421 CA379912634 |
196 | S>G | No |
ClinGen gnomAD |
|
|
rs1453860190 CA379912639 |
196 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1453860190 CA379912637 |
196 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5921138 rs569424464 |
197 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749355967 CA5921139 |
199 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771095068 CA5921140 |
201 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs377524729 CA5921142 |
204 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1201783797 CA379912727 |
204 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774494633 CA5921141 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5921143 rs768699702 CA5921144 |
206 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411198030 CA379912808 |
209 | V>L | No |
ClinGen Ensembl |
|
|
rs866549366 CA218723357 |
212 | G>D | No |
ClinGen Ensembl |
|
|
rs1168148789 CA379912870 |
213 | N>K | No |
ClinGen gnomAD |
|
|
CA218723360 rs889781592 |
215 | W>C | No |
ClinGen TOPMed |
|
|
rs1425241419 CA379912892 |
215 | W>G | No |
ClinGen gnomAD |
|
|
rs762621385 CA5921148 |
215 | W>S | No |
ClinGen ExAC |
|
|
CA5921149 rs765804820 |
219 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318357702 CA379912966 |
219 | Y>H | No |
ClinGen gnomAD |
|
|
CA5921150 rs751091717 |
220 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5921152 rs768135536 |
221 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752971854 CA5921153 |
223 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379913053 rs1270999182 |
224 | N>K | No |
ClinGen gnomAD |
|
|
rs1430388992 CA379913042 |
224 | N>Y | No |
ClinGen gnomAD |
|
|
CA379913060 rs756595668 CA5921154 |
225 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565271429 CA379913077 RCV000782023 |
226 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 226 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749454269 CA5921156 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750202383 CA218724004 |
227 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379913640 rs1423720871 |
228 | A>S | No |
ClinGen TOPMed |
|
|
CA379913643 rs371265931 |
228 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758023238 CA218724006 |
230 | L>I | No |
ClinGen Ensembl |
|
|
CA5921177 rs192267480 |
231 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379913666 rs1391670849 |
232 | P>R | No |
ClinGen gnomAD |
|
|
CA5921179 rs750451386 |
232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748008761 CA5921182 |
234 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239763622 CA379913694 |
236 | M>T | No |
ClinGen gnomAD |
|
|
rs1292093745 CA379913712 |
239 | L>P | No |
ClinGen gnomAD |
|
|
rs770456450 CA5921186 |
240 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921185 rs749146260 |
240 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199004908 CA379913718 |
241 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379913733 rs1254431908 |
243 | P>R | No |
ClinGen TOPMed |
|
|
CA5921188 rs759132017 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759132017 CA5921189 |
243 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5921190 rs200933754 |
244 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761251963 CA5921191 |
250 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218724021 rs902806134 |
251 | L>M | No |
ClinGen Ensembl |
|
|
CA379913793 RCV000657769 rs1555039090 |
253 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762290701 CA5921194 |
253 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1447532946 CA379913807 |
254 | F>L | No |
ClinGen gnomAD |
|
|
CA5921195 COSM1127810 rs765546050 |
255 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA218724026 rs1009087974 |
256 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA379913828 rs1380441784 |
258 | G>R | No |
ClinGen gnomAD |
|
|
CA5921196 rs576059875 |
258 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758558488 CA5921197 |
259 | P>A | No |
ClinGen ExAC TOPMed |
|
|
rs758558488 CA379913833 |
259 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA379913845 rs1224878718 |
261 | S>P | No |
ClinGen gnomAD |
|
|
CA379913844 rs1224878718 |
261 | S>T | No |
ClinGen gnomAD |
|
|
CA218724032 rs900524902 |
262 | V>L | No |
ClinGen gnomAD |
|
|
CA5921200 rs756037540 |
263 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1240593100 CA379913872 |
265 | A>P | No |
ClinGen gnomAD |
|
|
rs777725659 CA5921201 |
266 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5921203 rs757026685 |
267 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416203225 CA379913903 |
270 | Q>H | No |
ClinGen TOPMed |
|
|
CA5921205 rs376512291 |
270 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771680516 CA5921206 |
271 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779904394 CA5921227 |
271 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218724116 rs900721682 |
273 | G>S | No |
ClinGen Ensembl |
|
|
rs768243813 CA5921229 |
274 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768243813 CA379913936 |
274 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921228 rs141471006 |
274 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5921231 rs748625983 |
275 | A>T | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773625816 CA5921233 |
278 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763270849 CA5921234 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766568427 CA5921235 |
280 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5921236 rs774510262 |
280 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774510262 CA379913971 |
280 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379913999 rs887898848 |
284 | A>P | No |
ClinGen gnomAD |
|
|
CA379914010 rs1480155146 |
285 | I>T | No |
ClinGen gnomAD |
|
|
CA5921239 rs752732733 |
286 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001090237 rs1852607635 |
287 | Y>* | No |
ClinVar dbSNP |
|
|
CA5921240 rs757213363 |
287 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs765126043 CA5921241 |
288 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5921242 rs369546227 |
289 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5921243 rs758216248 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1300908673 CA379914091 |
291 | I>S | No |
ClinGen gnomAD |
|
|
rs1565272909 CA379914087 |
291 | I>V | No |
ClinGen Ensembl |
|
|
CA5921244 rs780023220 |
292 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA379914118 rs1220156938 |
293 | Y>C | No |
ClinGen TOPMed |
|
|
CA379914113 rs1436597760 |
293 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA218724136 rs549533519 |
296 | F>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA379914214 rs1309154181 |
299 | F>L | No |
ClinGen gnomAD |
|
|
rs754688051 CA5921246 |
301 | S>F | No |
ClinGen ExAC |
|
|
rs780841122 CA5921247 |
303 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA379914286 rs1242688293 |
304 | S>P | No |
ClinGen gnomAD |
|
|
CA379914298 rs1289909337 |
305 | V>L | No |
ClinGen gnomAD |
|
|
rs1024617246 CA218724144 |
307 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379914361 rs1328900691 |
309 | G>D | No |
ClinGen gnomAD |
|
|
CA218724148 rs373186404 |
310 | S>F | No |
ClinGen TOPMed |
|
|
rs749826108 CA5921251 COSM1746179 |
312 | N>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA218724153 rs535066727 |
314 | P>A | No |
ClinGen 1000Genomes |
|
|
CA5921253 rs774704429 |
314 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA379914470 rs1371767157 |
315 | W>C | No |
ClinGen TOPMed |
|
|
CA5921256 rs150764554 |
317 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5921258 rs182204638 |
319 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1166467435 CA379914520 |
319 | E>Q | No |
ClinGen gnomAD |
|
|
rs749646019 CA5921259 |
320 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771324210 CA5921260 |
321 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1226548 rs1483980034 CA379914571 |
322 | D>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 325 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766215427 CA5921261 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1484069899 CA379915519 |
329 | D>E | No |
ClinGen gnomAD |
|
|
rs1449498342 CA379914687 |
329 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442798403 CA379915534 |
332 | V>I | No |
ClinGen gnomAD |
|
|
CA379915552 TCGA novel rs1460397499 |
334 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs755939224 CA5921285 |
334 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1260635121 CA379915559 |
335 | D>V | No |
ClinGen TOPMed |
|
|
rs753404579 CA5921286 |
336 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477321434 CA379915564 |
336 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA218726455 rs865842548 |
337 | P>L | No |
ClinGen Ensembl |
|
|
CA5921287 rs757729373 |
341 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1479134763 CA379915607 |
342 | K>R | No |
ClinGen gnomAD |
|
|
rs939702709 CA218726465 |
343 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379915617 rs1415425096 |
343 | N>K | No |
ClinGen gnomAD |
|
|
rs371937657 CA5921289 |
344 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 346 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921291 rs780468433 |
347 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747139004 CA379915645 CA5921292 |
348 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921293 rs368513146 |
348 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921294 rs201604337 |
349 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379915653 rs1590161644 |
349 | T>P | No |
ClinGen Ensembl |
|
|
rs759580965 CA5921298 |
350 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921299 rs767152613 |
351 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775370118 CA5921300 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921302 rs763873675 |
354 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1489655550 CA379915691 |
355 | T>I | No |
ClinGen gnomAD |
|
|
rs1377673506 CA379915695 |
356 | M>T | No |
ClinGen gnomAD |
|
|
CA379915693 rs1197488888 |
356 | M>V | No |
ClinGen gnomAD |
|
|
rs1478665306 CA379915703 |
357 | V>I | No |
ClinGen gnomAD |
|
|
CA5921304 rs756707631 |
360 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1419421102 CA379915737 |
362 | Q>E | No |
ClinGen gnomAD |
|
|
CA379915741 rs1362652068 |
362 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764757803 CA5921305 |
362 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5921306 rs750861694 |
363 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250507202 CA379915747 |
363 | A>V | No |
ClinGen TOPMed |
|
|
CA379915752 rs1565275848 |
364 | N>S | No |
ClinGen Ensembl |
|
|
CA5921307 rs758953823 |
365 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447121621 CA379915758 |
365 | K>T | No |
ClinGen TOPMed |
|
|
rs1331727512 CA379915767 |
366 | T>I | No |
ClinGen gnomAD |
|
|
rs147227187 CA5921308 |
367 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277636301 CA379915784 |
369 | S>G | No |
ClinGen gnomAD |
|
|
CA5921310 rs755128309 |
373 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5921309 rs747469002 |
373 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5921311 rs781617910 |
375 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781617910 CA379915827 |
375 | F>V | No |
ClinGen ExAC gnomAD |
|
| rs532759670 | 376 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921340 rs769498762 |
384 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA379916287 rs1187108565 |
384 | A>S | No |
ClinGen gnomAD |
|
|
rs1459528268 CA379916297 |
386 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1168679539 CA379916308 |
387 | E>G | No |
ClinGen gnomAD |
|
|
CA379916312 rs1399597951 |
388 | Y>H | No |
ClinGen gnomAD |
|
|
rs534157985 CA218727461 |
389 | P>S | No |
ClinGen 1000Genomes |
|
|
CA5921345 rs553897287 |
391 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5921346 rs767937033 |
393 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341842937 CA379916354 |
394 | W>* | No |
ClinGen gnomAD |
|
|
CA379916368 rs1555040941 |
397 | A>T | No |
ClinGen Ensembl |
|
|
CA5921348 rs756401575 |
398 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921349 rs778182008 |
399 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1318001083 CA379916382 |
399 | C>Y | No |
ClinGen gnomAD |
|
|
rs1260473559 CA379916388 |
400 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257271866 CA379916429 |
406 | I>T | No |
ClinGen gnomAD |
|
|
rs757319575 CA5921351 |
406 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA379916432 rs1191773527 |
407 | V>M | No |
ClinGen gnomAD |
|
|
rs778861669 CA5921352 |
410 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380299964 CA379916460 |
411 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 412 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781525249 CA218727492 |
415 | I>T | No |
ClinGen TOPMed |
|
|
rs1404050208 CA379916497 |
416 | K>N | No |
ClinGen gnomAD |
|
|
rs1303265732 CA379916490 |
416 | K>Q | No |
ClinGen gnomAD |
|
|
CA5921359 rs769410721 |
417 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769410721 CA379916501 |
417 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391862659 CA379916512 |
419 | G>E | No |
ClinGen gnomAD |
|
|
rs121908498 CA5921393 |
425 | T>K | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1421208814 CA379916913 |
427 | T>M | No |
ClinGen gnomAD |
|
|
rs1373768514 CA379916931 |
430 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5921401 rs747503226 |
432 | V>I | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379916942 rs747503226 |
432 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378108340 CA379916952 |
434 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA379916985 rs1321205817 |
439 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA379916991 rs1425037350 |
440 | G>E | No |
ClinGen gnomAD |
|
|
rs1222330346 CA379916988 |
440 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1425037350 CA379916993 |
440 | G>V | No |
ClinGen gnomAD |
|
|
rs1362801777 CA379917003 |
442 | T>N | No |
ClinGen gnomAD |
|
|
CA379917000 rs1327255980 |
442 | T>P | No |
ClinGen TOPMed |
|
|
rs763170495 CA5921407 |
443 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238622399 CA379917024 |
446 | A>S | No |
ClinGen gnomAD |
|
|
rs1393019433 CA379917030 |
447 | G>E | No |
ClinGen TOPMed |
|
|
rs1015398111 CA218738680 |
447 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5921410 rs760658289 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753645462 CA5921412 |
451 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA218738687 rs553718667 |
453 | F>L | No |
ClinGen gnomAD |
|
|
rs151291192 CA218738692 |
456 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151291192 CA5921413 |
456 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5921414 rs778772348 |
457 | K>Q | No |
ClinGen ExAC |
|
|
CA218738702 rs912922347 |
458 | W>C | No |
ClinGen gnomAD |
|
|
CA379917113 rs1444737686 |
460 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1444737686 CA379917112 |
460 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5921417 rs774730423 |
462 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921416 rs774730423 |
462 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921421 rs374998084 |
464 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs773583338 | 465 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921422 rs146647574 COSM3397613 |
465 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771986976 CA5921448 |
466 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs867099087 CA218739404 |
467 | W>* | No |
ClinGen Ensembl |
|
|
rs200557399 CA218739393 |
467 | W>R | No |
ClinGen 1000Genomes |
|
|
CA218739409 rs199577297 |
468 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 469 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1703710 rs1334579633 CA379917179 |
469 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1590169683 CA379917186 |
470 | A>P | No |
ClinGen Ensembl |
|
|
CA379917202 rs1328271952 |
472 | T>I | No |
ClinGen gnomAD |
|
|
RCV000852298 rs767695215 |
477 | S>missing | No |
ClinVar dbSNP |
|
|
RCV000852297 CA379917235 rs1590169700 |
477 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs773115639 CA5921454 |
480 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379917269 rs1411486846 |
482 | W>* | No |
ClinGen TOPMed |
|
|
rs762782760 CA5921455 |
483 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751102763 CA5921457 |
488 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197374743 CA379917316 |
490 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA379917323 rs1266944197 |
491 | Y>* | No |
ClinGen TOPMed |
|
|
CA379917329 rs1454998181 |
492 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5921458 rs766925714 |
493 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752322438 CA5921459 |
495 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA379917359 rs1419402370 |
496 | N>S | No |
ClinGen gnomAD |
|
|
CA379917369 rs1358053912 |
497 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 497 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921460 rs756585303 |
498 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5921462 rs7944684 |
499 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138733797 CA218740946 |
501 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs976204065 CA218740952 |
503 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5921490 rs148946569 |
504 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559477967 CA5921491 |
505 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs999376868 CA218740968 |
506 | T>I | No |
ClinGen TOPMed |
|
|
rs781431945 CA5921492 |
507 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA218740973 rs143730018 |
508 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143730018 CA5921493 |
508 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5921495 rs773991079 |
513 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759428306 CA5921496 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA379917503 rs1338086969 |
517 | G>A | No |
ClinGen TOPMed |
|
|
rs775169071 CA5921498 |
517 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921500 rs570442943 COSM247427 |
519 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA379917519 rs1479911774 |
520 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367614662 CA5921504 |
523 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921506 rs374914772 |
525 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5921507 rs780283507 |
527 | M>V | No |
ClinGen ExAC |
|
|
CA379917578 rs755306577 |
529 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5921510 rs771753499 |
531 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1216195877 COSM182765 CA379917595 |
531 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA379917597 rs1216195877 |
531 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748281746 CA5921511 |
533 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921513 rs778862065 |
536 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1265967338 CA379917644 |
538 | V>E | No |
ClinGen TOPMed |
|
|
rs549485836 CA218741077 |
540 | D>N | No |
ClinGen 1000Genomes |
|
|
rs931802079 CA218741080 |
541 | Q>* | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs931802079 CA379917661 |
541 | Q>E | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen TOPMed gnomAD |
| TCGA novel | 541 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555858151 CA5921538 |
543 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379917835 rs1291180235 |
546 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1291180235 CA379917834 |
546 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379917862 rs1590174592 |
550 | Y>S | No |
ClinGen Ensembl |
|
|
CA5921541 rs766837791 |
551 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781330809 CA5921540 |
551 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572423350 CA5921543 |
553 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5921544 rs768025059 |
553 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756304752 CA5921546 |
555 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs752901723 CA5921545 |
555 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756304752 CA379917893 |
555 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5921547 rs764223816 |
559 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748438413 CA5921548 |
561 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748438413 CA379917927 |
561 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177652920 CA379917930 |
562 | F>V | No |
ClinGen gnomAD |
|
|
CA379917939 rs1590174665 |
563 | W>* | No |
ClinGen Ensembl |
|
|
rs1183779010 CA379917944 |
563 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 563 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779916559 CA5921550 |
564 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379917959 rs1162149973 |
566 | I>N | No |
ClinGen gnomAD |
|
|
CA5921551 rs200003617 |
566 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1461440222 CA379917980 |
569 | L>V | No |
ClinGen gnomAD |
|
|
CA5921554 rs747820050 |
575 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1279219950 CA379918025 |
576 | L>F | No |
ClinGen gnomAD |
|
|
rs1225657152 CA379918043 |
578 | T>I | No |
ClinGen gnomAD |
|
|
rs1233839969 CA379918050 |
579 | M>I | No |
ClinGen gnomAD |
|
|
CA5921556 rs368756114 |
579 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379918085 rs1380633510 |
583 | I>V | No |
ClinGen TOPMed |
|
|
CA5921575 rs777246131 |
587 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379918112 rs1207600372 |
587 | V>M | No |
ClinGen gnomAD |
|
|
CA379918121 rs1424340389 |
588 | T>I | No |
ClinGen TOPMed |
|
|
rs1590175114 CA379918116 |
588 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 594 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565285345 CA379918167 |
595 | P>S | No |
ClinGen Ensembl |
|
|
rs1000786095 CA218745041 |
596 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590175133 CA379918181 |
597 | Y>S | No |
ClinGen Ensembl |
|
|
rs755102755 CA5921578 |
599 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138885115 COSM267454 CA5921580 |
599 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5921579 rs138885115 |
599 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769094642 CA5921583 |
601 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5921582 rs760897544 |
601 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775899410 CA5921581 |
601 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5921584 rs776650853 |
602 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429944835 CA379918214 |
603 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1429944835 CA379918212 |
603 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379918236 rs1363840747 |
606 | T>I | No |
ClinGen gnomAD |
|
|
CA5921585 rs762031455 |
606 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA379918243 rs1565285393 |
608 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 609 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279300118 CA379918299 |
615 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5921588 rs750565830 |
616 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283339838 CA379918314 |
617 | G>V | No |
ClinGen gnomAD |
|
|
rs202063625 CA218745112 |
620 | M>T | No |
ClinGen 1000Genomes |
|
|
CA5921590 rs767494455 |
620 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476658235 CA379918345 |
622 | T>S | No |
ClinGen gnomAD |
|
|
CA379918351 rs1332758930 |
623 | Q>* | No |
ClinGen TOPMed |
|
|
CA379918349 rs1332758930 |
623 | Q>K | No |
ClinGen TOPMed |
|
|
rs1329009953 CA379918582 |
627 | Y>F | No |
ClinGen gnomAD |
|
|
CA218746115 rs979821579 |
628 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767840647 CA218746106 |
628 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921616 rs767840647 |
628 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379918601 rs1241890919 |
630 | Q>P | No |
ClinGen gnomAD |
|
|
CA379918608 rs1353565052 |
631 | L>F | No |
ClinGen gnomAD |
|
|
rs1085307782 CA379918610 RCV000489153 |
631 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_036160 | 632 | V>E | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA379918618 rs1232014817 COSM182769 |
633 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1469213893 CA379918629 |
634 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748558965 CA5921620 |
636 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5921621 rs770169307 |
637 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756457996 CA5921623 |
639 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418541031 CA379918667 |
640 | A>V | No |
ClinGen gnomAD |
|
|
CA379918668 rs1462931345 |
641 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1131691477 CA379918685 RCV000492889 |
643 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5921627 rs764135963 |
646 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5921626 rs760528634 |
646 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379918701 rs1590175967 |
646 | I>V | No |
ClinGen Ensembl |
|
|
CA5921628 rs776547802 |
649 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA379918721 rs776547802 |
649 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs143967107 CA5921630 |
650 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143967107 CA5921631 |
650 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921632 rs758123289 |
652 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1235664319 CA379918741 |
652 | I>M | No |
ClinGen gnomAD |
|
|
rs1250045669 CA379918746 |
653 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1250045669 CA379918747 |
653 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1252864877 CA379918757 |
655 | V>M | No |
ClinGen gnomAD |
|
|
CA5921636 rs781626578 |
656 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA379919271 rs1393021676 |
657 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754274129 CA5921657 |
658 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379919287 rs1201970022 |
659 | Q>* | No |
ClinGen Ensembl |
|
|
rs1376753798 CA379919296 |
659 | Q>L | No |
ClinGen gnomAD |
|
|
CA379919332 rs1287660606 |
662 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379919367 rs1367237864 |
664 | D>G | No |
ClinGen TOPMed |
|
|
CA379919361 rs1220046520 |
664 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 665 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379919382 rs1384921627 |
665 | I>T | No |
ClinGen gnomAD |
|
|
COSM170721 TCGA novel CA5921661 rs746079997 |
666 | E>D | Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated ExAC gnomAD |
|
rs779149412 CA5921660 |
666 | E>G | No |
ClinGen ExAC |
|
|
rs148559046 CA5921658 |
666 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1637893 rs1233863393 CA379919435 |
669 | I>N | bone [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs772130570 CA5921662 |
669 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs972228377 CA218753899 |
672 | Q>* | No |
ClinGen TOPMed |
|
|
rs972228377 CA379919468 |
672 | Q>K | No |
ClinGen TOPMed |
|
|
CA379919487 rs1304379321 |
673 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379919512 rs1213786592 |
675 | I>T | No |
ClinGen gnomAD |
|
|
CA218753901 rs780454469 |
675 | I>V | No |
ClinGen gnomAD |
|
|
CA218753920 rs977406550 |
678 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379919591 rs1250911193 |
681 | W>R | No |
ClinGen gnomAD |
|
|
CA5921664 rs748089794 |
682 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA379919647 rs1193897774 |
685 | T>N | No |
ClinGen gnomAD |
|
|
rs769892184 CA5921665 |
687 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA379919664 rs769892184 |
687 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1416903782 CA379919672 |
687 | T>S | No |
ClinGen gnomAD |
|
|
rs773119352 CA5921666 |
689 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291476714 CA379915860 |
692 | I>V | No |
ClinGen gnomAD |
|
|
rs1014175831 CA218724771 |
696 | S>I | No |
ClinGen TOPMed |
|
|
rs1334126263 CA379915920 |
700 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs2276433 CA379915934 CA218724777 |
701 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1233822502 CA379915932 |
701 | E>G | No |
ClinGen gnomAD |
|
|
CA5921695 rs750789309 |
703 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921694 rs141398594 |
703 | M>V | No |
ClinGen ESP ExAC |
|
|
CA379915950 rs1469024763 |
704 | T>A | No |
ClinGen TOPMed |
|
|
rs1565291427 CA379915952 |
704 | T>S | No |
ClinGen Ensembl |
|
|
rs1461498196 CA674481734 |
708 | Y>* | No |
ClinGen TOPMed |
|
|
rs755040627 CA5921699 |
708 | Y>* | Hyperekplexia 3 (hkpx3) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA5921700 rs151244472 |
709 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379915981 COSM925930 rs1408524137 |
709 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs757209577 CA5921702 |
710 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921703 rs140461634 |
715 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA218724810 rs1015399390 |
716 | V>A | No |
ClinGen TOPMed |
|
|
CA379916035 rs1311198750 |
717 | L>F | No |
ClinGen gnomAD |
|
|
COSM1703714 CA218724825 rs777399866 |
718 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5921706 rs775086960 |
719 | W>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 721 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921707 rs746672151 |
721 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768138885 CA379916066 |
722 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA379916068 rs1213817694 |
722 | L>P | No |
ClinGen gnomAD |
|
|
rs768138885 CA5921708 |
722 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1158827596 CA379916072 |
723 | A>V | No |
ClinGen TOPMed |
|
|
CA5921711 rs142440636 |
724 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5921712 rs142440636 |
724 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5921713 rs145908606 |
725 | S>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5921715 rs138848148 |
726 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5921716 rs755310853 |
727 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767630532 CA5921718 |
728 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs767630532 CA5921717 |
728 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA5921720 rs778671471 |
730 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1374954017 CA379916126 |
732 | M>I | No |
ClinGen gnomAD |
|
|
rs534333220 CA5921721 |
732 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA218724875 rs534333220 |
732 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486642397 CA379916147 |
735 | I>T | No |
ClinGen TOPMed |
|
|
CA379916169 rs1435380761 |
738 | H>Y | No |
ClinGen gnomAD |
|
|
CA218724884 rs977602330 |
739 | L>P | No |
ClinGen TOPMed |
|
|
rs779879466 CA5921723 |
740 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293806071 COSM466671 CA379916184 |
741 | P>A | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 742 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144642963 CA5921725 |
745 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 746 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212267333 CA379916551 |
749 | K>R | No |
ClinGen TOPMed gnomAD |
|
| VAR_011593 | 751 | V>A | no effect on glycine transport [UniProt] | No | UniProt |
|
CA5921748 rs1715297 |
753 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187593242 COSM687743 CA379916583 |
754 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5921751 rs759773884 |
755 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1474528666 CA379916590 |
755 | Q>R | No |
ClinGen TOPMed |
|
|
CA5921752 rs199835047 |
756 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265909070 CA379916596 |
756 | P>S | No |
ClinGen TOPMed |
|
|
CA379916608 rs1260431978 |
758 | W>R | No |
ClinGen TOPMed |
|
|
CA379916627 rs1414139552 |
760 | P>L | No |
ClinGen gnomAD |
|
|
rs375399805 CA379916628 |
761 | F>I | No |
ClinGen ESP TOPMed |
|
|
COSM1475332 CA218725777 rs375399805 |
761 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
| TCGA novel | 762 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5921755 rs764151464 |
762 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1232412390 COSM1507770 CA379916636 |
762 | L>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA218725782 rs949339043 |
763 | A>G | No |
ClinGen Ensembl |
|
|
CA5921756 rs753956513 |
764 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388155240 CA379916650 |
764 | Q>L | No |
ClinGen gnomAD |
|
|
CA5921757 rs762850669 |
765 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5921760 rs141654146 |
766 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5921764 rs777388587 |
767 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs16906628 CA379916664 |
767 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5921766 rs756851276 |
769 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756851276 CA379916676 |
769 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379916678 rs75450512 |
769 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA218725815 rs1020409424 |
771 | K>E | No |
ClinGen Ensembl |
|
|
rs772269368 CA5921769 |
772 | N>K | No |
ClinGen ExAC |
|
|
rs746395612 CA5921768 |
772 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747165353 CA5921771 |
773 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5921770 rs775985013 |
773 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200734060 CA379916718 |
775 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776857479 CA5921773 |
775 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776857479 COSM925931 CA5921774 |
775 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 776 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 777 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218725832 rs1003399012 |
783 | G>E | No |
ClinGen TOPMed |
|
|
CA5921776 rs774095713 |
788 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379916804 rs370014190 COSM925932 |
789 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5921779 rs752579694 |
790 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379916807 rs1373031954 |
790 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA379916806 rs1373031954 |
790 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1268520277 CA379916817 |
791 | L>S | No |
ClinGen TOPMed |
|
|
rs755700484 CA5921780 |
792 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5921782 rs753579914 |
794 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218725852 rs749575509 |
796 | Q>L | No |
ClinGen Ensembl |
No associated diseases with Q9Y345
No regional properties for Q9Y345
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y345 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| dense core granule | Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| glycinergic synapse | A synapse that uses glycine as a neurotransmitter. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of presynaptic membrane | The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycine:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glycine(out) + Na+(out) = glycine(in) + Na+(in). |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| glycine import across plasma membrane | The directed movement of glycine from outside of a cell, across the plasma membrane and into the cytosol. |
| neurotransmitter uptake | The directed movement of neurotransmitters into neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| synaptic transmission, glycinergic | The vesicular release of glycine from a presynapse, across a chemical synapse, the subsequent activation of glycine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18875 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Bos taurus (Bovine) | PR |
| Q9MZ34 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Bos taurus (Bovine) | PR |
| Q9W4C5 | NAAT1 | Sodium-dependent nutrient amino acid transporter 1 | Drosophila melanogaster (Fruit fly) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Homo sapiens (Human) | PR |
| P48029 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | PR |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Mus musculus (Mouse) | PR |
| P31648 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Mus musculus (Mouse) | PR |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Mus musculus (Mouse) | PR |
| Q8VBW1 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Mus musculus (Mouse) | PR |
| P31649 | Slc6a13 | Sodium- and chloride-dependent GABA transporter 2 | Mus musculus (Mouse) | PR |
| Q761V0 | Slc6a5 | Sodium- and chloride-dependent glycine transporter 2 | Mus musculus (Mouse) | PR |
| P31647 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Rattus norvegicus (Rat) | PR |
| P23978 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Rattus norvegicus (Rat) | PR |
| P28570 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Rattus norvegicus (Rat) | PR |
| O76689 | snf-6 | Sodium-dependent acetylcholine transporter | Caenorhabditis elegans | PR |
| G5EBN9 | snf-3 | Sodium- and chloride-dependent betaine transporter | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDCSAPKEMN | KLPANSPEAA | AAQGHPDGPC | APRTSPEQEL | PAAAAPPPPR | VPRSASTGAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TFQSADARAC | EAERPGVGSC | KLSSPRAQAA | SAALRDLREA | QGAQASPPPG | SSGPGNALHC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KIPFLRGPEG | DANVSVGKGT | LERNNTPVVG | WVNMSQSTVV | LATDGITSVL | PGSVATVATQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDEQGDENKA | RGNWSSKLDF | ILSMVGYAVG | LGNVWRFPYL | AFQNGGGAFL | IPYLMMLALA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLPIFFLEVS | LGQFASQGPV | SVWKAIPALQ | GCGIAMLIIS | VLIAIYYNVI | ICYTLFYLFA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SFVSVLPWGS | CNNPWNTPEC | KDKTKLLLDS | CVISDHPKIQ | IKNSTFCMTA | YPNVTMVNFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SQANKTFVSG | SEEYFKYFVL | KISAGIEYPG | EIRWPLALCL | FLAWVIVYAS | LAKGIKTSGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VVYFTATFPY | VVLVILLIRG | VTLPGAGAGI | WYFITPKWEK | LTDATVWKDA | ATQIFFSLSA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AWGGLITLSS | YNKFHNNCYR | DTLIVTCTNS | ATSIFAGFVI | FSVIGFMANE | RKVNIENVAD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QGPGIAFVVY | PEALTRLPLS | PFWAIIFFLM | LLTLGLDTMF | ATIETIVTSI | SDEFPKYLRT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HKPVFTLGCC | ICFFIMGFPM | ITQGGIYMFQ | LVDTYAASYA | LVIIAIFELV | GISYVYGLQR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FCEDIEMMIG | FQPNIFWKVC | WAFVTPTILT | FILCFSFYQW | EPMTYGSYRY | PNWSMVLGWL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MLACSVIWIP | IMFVIKMHLA | PGRFIERLKL | VCSPQPDWGP | FLAQHRGERY | KNMIDPLGTS |
| 790 | |||||
| SLGLKLPVKD | LELGTQC |