Q08357
PR
Gene name |
SLC20A2 (GLVR2, PIT2) |
Protein name |
Sodium-dependent phosphate transporter 2 |
Names |
Gibbon ape leukemia virus receptor 2, GLVR-2, Phosphate transporter 2, PiT-2, Pit2, hPit2, Solute carrier family 20 member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6575 |
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 Q08357
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q08357-F1 | Predicted | AlphaFoldDB |
479 variants for Q08357
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1563498184 RCV000785754 |
7 | L>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA176002564 VAR_072255 rs201836672 |
11 | I>L | IBGC1 [UniProt] | Yes |
ClinGen UniProt 1000Genomes dbSNP gnomAD |
|
RCV000623704 rs1554561128 |
19 | I>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554561099 CA16042725 RCV000412914 VAR_072256 COSM1100046 |
28 | D>N | Variant assessed as Somatic; impact. endometrium IBGC1; Impairs phosphate transport; no effect on retroviral receptor function [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001196378 rs1807706006 |
33 | F>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371090033 RCV001160367 rs1268071663 |
40 | G>D | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_067545 | 42 | V>del | IBGC1; substantially impaired phosphate transport [UniProt] | Yes | UniProt |
|
RCV000626024 CA371089999 RCV002272308 rs751093906 |
46 | Q>* | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_072257 | 51 | A>V | IBGC1 [UniProt] | Yes | UniProt |
| VAR_072258 | 62 | L>P | IBGC1 [UniProt] | Yes | UniProt |
|
RCV000785748 CA371089891 rs1563497714 |
63 | G>D | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563497719 RCV000785749 CA371089895 |
63 | G>S | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_072259 | 71 | R>H | IBGC1 [UniProt] | Yes | UniProt |
|
rs1563490467 RCV000785752 |
101 | W>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775911275 VAR_072260 CA4733604 |
115 | T>M | IBGC1; loss of sodium-dependent phosphate transport but no effect on cell membrane localization [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP |
|
RCV000066204 RCV000303018 rs398122395 |
169 | I>* | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142888552 RCV000911078 RCV002540820 CA4733541 |
178 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_075396 | 184 | P>L | IBGC1; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000399623 rs188325552 CA4733536 |
185 | V>L | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA371085204 RCV001196927 rs1272921798 |
190 | T>A | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs748252183 VAR_075397 CA4733532 |
194 | N>S | IBGC1; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000066208 rs398122397 RCV000793976 |
195 | V>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4733489 rs140978915 RCV001159029 |
227 | A>T | Variant assessed as Somatic; 0.0 impact. Idiopathic basal ganglia calcification 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138816265 RCV000291522 RCV000861434 CA4733463 |
254 | R>Q | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4733456 rs369823081 RCV000384697 |
263 | V>I | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs781554326 CA175978703 RCV001061920 RCV002471024 |
286 | P>R | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001522227 RCV000372995 RCV001580040 rs73675069 CA4733435 |
304 | G>S | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886041752 RCV002558581 RCV001163955 |
324 | S>L | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1804370172 RCV001267189 |
356 | D>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748895007 CA4733384 RCV000312294 |
364 | D>N | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200010919 CA4733376 VAR_072261 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. IBGC1 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA371097202 RCV000785750 rs1563453866 |
399 | H>P | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_072262 CA371096978 rs1357615935 |
434 | S>W | IBGC1 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs374973821 RCV002558572 CA4733339 RCV001163643 |
446 | E>D | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000708581 rs1563452941 CA371096823 |
459 | E>* | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4733332 RCV000306457 rs144428935 |
459 | E>D | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs79577461 RCV001523704 CA4733314 RCV001579610 RCV000391565 |
480 | A>T | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002032481 RCV003163349 rs748282424 CA4733313 RCV001160276 |
480 | A>V | Idiopathic basal ganglia calcification 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000022662 CA371096566 rs1586022262 VAR_067546 |
498 | G>R | Idiopathic basal ganglia calcification 1 IBGC1; substantially impaired phosphate transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_072263 | 502 | H>Q | IBGC1 [UniProt] | Yes | UniProt |
|
RCV000785747 rs1563452322 |
507 | V>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10631093 RCV000302514 rs1420760497 |
526 | V>L | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002032480 rs145970823 RCV001160275 RCV002559534 CA4733273 |
527 | T>M | Idiopathic basal ganglia calcification 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763252801 VAR_072264 CA4733251 |
568 | P>L | IBGC1 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs1388992742 VAR_075398 CA371095139 |
571 | G>S | IBGC1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA371095111 rs387906653 RCV000626025 |
575 | E>* | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906653 VAR_067547 RCV000022665 CA259653 |
575 | E>K | Idiopathic basal ganglia calcification 1 IBGC1; substantially impaired phosphate transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000022666 rs387906654 VAR_067548 RCV002513170 CA259655 |
595 | T>M | Idiopathic basal ganglia calcification 1 IBGC1; substantially impaired phosphate transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000172921 rs387906652 CA346850 VAR_067549 |
601 | S>L | Variant assessed as Somatic; 0.0 impact. Idiopathic basal ganglia calcification 1 IBGC1; substantially impaired phosphate transport [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000172920 VAR_067550 CA346848 rs387906652 |
601 | S>W | Idiopathic basal ganglia calcification 1 IBGC1; substantially impaired phosphate transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs398122396 RCV000066206 |
610 | S>missing | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4733185 rs537867998 RCV001158934 RCV001882501 |
617 | R>C | Idiopathic basal ganglia calcification 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_088078 | 629 | T>TWFVT | IBGC1; unknown pathological significance; reduced sodium-dependent phosphate transport and cell membrane localization [UniProt] | Yes | UniProt |
| VAR_072265 | 637 | S>R | IBGC1; loss of sodium-dependent phosphate transport but no effect on cell membrane localization [UniProt] | Yes | UniProt |
|
CA371090360 rs1462261059 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA4733667 rs771999521 |
3 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA371090350 rs1586141141 |
3 | M>V | No |
ClinGen Ensembl |
|
|
rs1169410244 CA371090323 |
5 | E>A | No |
ClinGen TOPMed |
|
|
CA371090317 rs745994750 |
5 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA371090252 rs1456063042 |
10 | V>G | No |
ClinGen gnomAD |
|
|
CA176002565 rs201836672 |
11 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4733665 rs778939538 |
13 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176002550 rs956408753 |
15 | I>T | No |
ClinGen TOPMed |
|
|
rs1159235341 CA371090197 |
16 | I>V | No |
ClinGen gnomAD |
|
|
rs1458315219 CA371090189 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1034887212 CA176002546 |
19 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 23 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269195759 CA371090130 |
25 | G>S | No |
ClinGen gnomAD |
|
|
rs1554561110 CA371090119 |
26 | A>V | No |
ClinGen Ensembl |
|
|
rs1254960149 CA371090079 |
32 | S>F | No |
ClinGen Ensembl |
|
|
CA4733662 rs778249371 |
32 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 34 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000799171 rs1586140747 CA371090061 |
35 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA176002542 rs267601932 |
36 | A>V | No |
ClinGen Ensembl |
|
|
rs753094464 CA4733660 |
37 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733658 rs754379000 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4733657 rs751093906 |
46 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371089985 rs1366500182 |
48 | C>R | No |
ClinGen gnomAD |
|
|
rs1023863539 CA176002518 |
49 | I>V | No |
ClinGen Ensembl |
|
|
CA176002516 rs374432419 |
51 | A>S | No |
ClinGen ESP |
|
|
rs762590833 CA4733655 |
53 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750117108 CA371089929 |
56 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4733654 rs750117108 |
56 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs370097341 CA4733653 |
57 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371089922 rs1462676972 |
58 | G>S | No |
ClinGen TOPMed |
|
|
CA176002509 rs778119473 |
59 | S>Y | No |
ClinGen Ensembl |
|
|
CA4733651 rs368076501 |
60 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141087152 CA4733650 |
61 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4733647 rs575073679 |
64 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733643 rs748548346 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373139157 CA4733642 COSM1100045 |
71 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA176002486 rs200620922 |
73 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779509036 CA4733639 |
77 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1586140085 CA371089792 |
78 | N>T | No |
ClinGen Ensembl |
|
|
CA371089780 rs1390551547 |
79 | L>P | No |
ClinGen gnomAD |
|
|
CA371089755 rs1170797362 |
81 | N>S | No |
ClinGen gnomAD |
|
|
CA4733636 rs764903802 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA176002448 rs903545295 |
83 | T>A | No |
ClinGen TOPMed |
|
|
rs753685494 CA4733634 |
83 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371089611 rs1277173063 |
88 | M>V | No |
ClinGen gnomAD |
|
|
CA4733631 rs760625822 |
89 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs879187509 CA176002423 |
91 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486349966 CA371089473 |
95 | M>V | No |
ClinGen TOPMed |
|
|
CA371089444 rs1586139792 |
96 | V>G | No |
ClinGen Ensembl |
|
|
CA371087409 rs149761291 |
99 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733608 rs149761291 |
99 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371087244 rs1279191030 |
107 | F>Y | No |
ClinGen gnomAD |
|
|
RCV000330173 CA10603086 rs886041397 |
113 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA371087118 rs1381618685 |
114 | G>A | No |
ClinGen TOPMed |
|
|
CA4733602 rs746435344 |
117 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs62508043 CA175997664 |
118 | I>F | No |
ClinGen Ensembl |
|
|
rs483352733 CA229138 RCV000087218 |
118 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs557311431 CA4733600 |
119 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748918290 CA4733599 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586120384 CA371086955 |
123 | I>M | No |
ClinGen Ensembl |
|
|
rs1434408590 CA371086967 |
123 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4733596 rs752552284 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1401929760 CA371086843 |
130 | I>V | No |
ClinGen gnomAD |
|
|
CA4733594 rs751587953 |
131 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA371086822 rs1262827582 |
131 | G>D | No |
ClinGen TOPMed |
|
|
CA4733593 rs751587953 |
131 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371086828 rs751587953 |
131 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4733592 RCV000479835 rs765338905 |
132 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs761822058 CA4733591 |
136 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA371086753 rs776875200 |
136 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733590 rs776875200 |
136 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052367854 CA175997574 |
137 | W>* | No |
ClinGen TOPMed |
|
|
CA371086697 rs1563490225 |
138 | M>I | No |
ClinGen Ensembl |
|
|
rs764228818 CA4733589 |
140 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1279297447 CA371086616 |
143 | I>T | No |
ClinGen gnomAD |
|
|
CA4733569 rs569644369 |
145 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 145 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001091602 rs965924291 CA175995448 |
146 | S>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA175995446 rs990011780 |
149 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554557554 RCV000523937 |
153 | L>missing | No |
ClinVar dbSNP |
|
|
CA371086424 rs1586110761 RCV001008017 |
153 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1334799490 CA371086420 |
153 | L>F | No |
ClinGen gnomAD |
|
|
rs549762632 CA4733568 |
155 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349001857 CA371086395 |
157 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767815460 CA4733567 |
157 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4733566 rs759901594 |
159 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1347260677 CA371086359 |
163 | V>A | No |
ClinGen TOPMed |
|
|
rs1240903522 CA371086356 |
164 | L>V | No |
ClinGen TOPMed |
|
|
CA371086344 rs1288466151 |
166 | R>G | No |
ClinGen TOPMed |
|
|
rs769506307 CA175995411 |
167 | I>T | No |
ClinGen Ensembl |
|
|
CA175995410 rs750252716 |
168 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771365870 CA4733564 |
170 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763565914 CA4733563 |
171 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1417091086 CA371086299 |
171 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371086301 rs1417091086 |
171 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4733543 rs773828113 |
173 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748986588 CA175993025 |
174 | D>Y | No |
ClinGen TOPMed |
|
|
rs764781739 CA4733542 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs267601931 CA175993009 |
177 | P>S | No |
ClinGen Ensembl |
|
|
CA4733539 rs768443722 |
180 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA4733538 rs140059610 COSM1457173 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1211274033 CA371085310 |
181 | R>W | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371085227 rs1436586846 |
188 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756149755 CA4733533 |
192 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371085147 rs1172047196 |
195 | V>A | No |
ClinGen gnomAD |
|
|
rs766640433 CA4733528 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4733527 rs147501705 |
199 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750828219 CA4733526 |
200 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4733525 rs765874274 |
201 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367435358 CA371085057 |
203 | A>S | No |
ClinGen TOPMed |
|
|
CA4733503 rs200363169 |
207 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4733502 rs767223867 |
207 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4733501 rs780604908 |
209 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371082325 rs1395925270 |
211 | P>L | No |
ClinGen gnomAD |
|
|
CA371082327 rs1395925270 |
211 | P>R | No |
ClinGen gnomAD |
|
|
CA175982234 rs1054116011 |
212 | M>L | No |
ClinGen Ensembl |
|
|
rs762865281 CA4733498 |
212 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4733496 rs532843851 |
214 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4733497 rs532843851 |
214 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322372791 CA371082262 |
215 | I>V | No |
ClinGen TOPMed |
|
|
CA4733494 rs780088669 |
217 | L>F | No |
ClinGen ExAC |
|
|
rs1223321339 CA371082122 |
222 | V>A | No |
ClinGen TOPMed |
|
|
CA371082111 rs746130950 |
223 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1100042 rs746130950 CA4733492 |
223 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371082098 rs1454939525 |
224 | L>F | No |
ClinGen gnomAD |
|
|
rs1255471232 CA371082067 |
226 | F>C | No |
ClinGen gnomAD |
|
|
rs116687117 CA371082060 |
226 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140978915 CA371082052 |
227 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371082023 rs1267101659 |
229 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970811748 CA175982199 |
231 | W>C | No |
ClinGen Ensembl |
|
|
CA371082005 rs1232601702 |
231 | W>R | No |
ClinGen gnomAD |
|
|
rs111879775 CA175982193 |
233 | F>S | No |
ClinGen TOPMed |
|
|
rs766978868 CA4733485 |
234 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766978868 CA371081968 |
234 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371081927 COSM1457171 rs1366061951 |
236 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1308896170 CA371081909 |
238 | M>V | No |
ClinGen gnomAD |
|
|
rs137953282 CA175982170 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs751273041 CA4733483 |
239 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 242 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175982161 rs752847154 |
243 | T>K | No |
ClinGen Ensembl |
|
|
CA4733481 rs762742061 |
244 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753213016 CA4733468 |
246 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs947300789 CA175978800 |
247 | Q>R | No |
ClinGen TOPMed |
|
|
CA371081020 rs1586033713 |
250 | G>C | No |
ClinGen Ensembl |
|
|
CA371081009 rs1252676730 |
251 | A>V | No |
ClinGen TOPMed |
|
|
CA4733465 rs751146649 |
252 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750208051 CA4733462 |
255 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs962548500 CA175978770 |
256 | S>C | No |
ClinGen Ensembl |
|
|
CA175978763 rs372351259 |
258 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369833460 CA4733460 |
259 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776487207 CA4733459 |
261 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733458 rs767571308 |
261 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1333701322 CA371080944 |
262 | K>R | No |
ClinGen gnomAD |
|
|
CA4733457 rs369823081 |
263 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371080932 rs1229245666 |
264 | Q>R | No |
ClinGen gnomAD |
|
|
rs1404821757 CA371080918 |
266 | A>T | No |
ClinGen TOPMed |
|
|
CA371080903 rs1435766732 |
268 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1364152875 CA371080895 |
269 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371080890 rs1430609054 |
270 | V>E | No |
ClinGen gnomAD |
|
|
rs771260540 CA4733455 |
271 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733454 rs749564398 |
273 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA175978732 rs542409474 |
276 | G>V | No |
ClinGen 1000Genomes |
|
|
CA371080844 rs1307196733 |
278 | K>E | No |
ClinGen TOPMed |
|
|
COSM1100041 CA371080835 rs1373244504 |
279 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4733451 rs748633701 |
284 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563457780 CA371080764 |
285 | I>V | No |
ClinGen Ensembl |
|
|
CA4733449 rs781554326 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371080756 rs1166136527 |
286 | P>T | No |
ClinGen gnomAD |
|
|
CA371080744 rs1189799046 |
287 | L>F | No |
ClinGen gnomAD |
|
|
CA371080732 rs1484532440 |
288 | T>R | No |
ClinGen gnomAD |
|
|
CA4733445 rs758013310 |
290 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371080709 rs1309379794 |
291 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA175978685 rs189519979 |
292 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1054611493 CA175978678 |
293 | E>Q | No |
ClinGen gnomAD |
|
|
rs115932374 CA4733441 |
298 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201448246 CA4733442 |
298 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371080475 rs115932374 |
298 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371080445 rs1326315826 |
300 | G>D | No |
ClinGen gnomAD |
|
|
rs1414461717 CA371080427 |
301 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371279197 CA4733438 |
302 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733437 rs200267443 |
303 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733434 rs748493858 |
307 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4733433 rs748493858 |
307 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA175978600 rs991432699 |
308 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA371080322 rs991432699 |
308 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777147006 CA4733432 |
308 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA371080302 rs1563457393 |
310 | A>T | No |
ClinGen Ensembl |
|
|
rs1275666909 CA371080286 |
310 | A>V | No |
ClinGen gnomAD |
|
|
CA4733430 rs747553037 |
312 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371097750 rs1370163059 |
315 | L>P | No |
ClinGen gnomAD |
|
|
CA371097742 rs1428046444 |
317 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586025807 CA371097733 |
318 | T>P | No |
ClinGen Ensembl |
|
|
rs1455210640 CA371097722 |
319 | H>Q | No |
ClinGen gnomAD |
|
|
rs965011450 CA176011616 |
319 | H>R | No |
ClinGen Ensembl |
|
|
rs1343213696 CA371097715 |
320 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000273016 rs886041752 CA10603061 |
324 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4733407 rs769073655 |
327 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1366552677 CA371097667 |
328 | N>S | No |
ClinGen TOPMed |
|
|
rs1366552677 CA371097668 |
328 | N>T | No |
ClinGen TOPMed |
|
|
CA176011566 rs115961682 |
329 | G>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA371097662 rs115961682 COSM454590 |
329 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
CA371097659 rs1485119662 |
329 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4733402 rs770462505 |
330 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733401 rs770462505 |
330 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586025533 CA371097658 |
330 | T>P | No |
ClinGen Ensembl |
|
|
CA4733403 rs770462505 |
330 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281294595 CA371097655 |
331 | F>L | No |
ClinGen TOPMed |
|
|
CA176011542 rs569791992 COSM323365 |
332 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4733399 rs569791992 |
332 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1586025394 CA371097633 |
334 | D>A | No |
ClinGen Ensembl |
|
|
CA4733397 rs752617509 |
334 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176011536 rs369778536 |
334 | D>N | No |
ClinGen Ensembl |
|
|
CA176011526 rs866596728 |
335 | G>D | No |
ClinGen Ensembl |
|
|
CA4733396 rs781309493 |
335 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs750447282 CA4733394 |
337 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA176011499 rs762332674 |
339 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA371097598 rs1171993530 |
340 | D>N | No |
ClinGen gnomAD |
|
|
rs1051195741 CA176011437 |
349 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176011433 rs375616455 |
351 | S>L | No |
ClinGen ESP gnomAD |
|
|
CA176011432 rs997050954 |
352 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4733387 rs772474826 |
357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA371097465 rs1411058977 |
359 | H>L | No |
ClinGen gnomAD |
|
|
CA4733386 COSM1100036 rs760132991 |
362 | H>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA176011356 rs567386499 |
362 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs773733773 CA4733385 |
363 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371097433 rs1305696019 |
364 | D>A | No |
ClinGen gnomAD |
|
|
rs748895007 CA4733383 |
364 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1226012 CA371097419 rs1163459014 |
366 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs781183228 CA4733379 |
373 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563454139 CA371097371 |
373 | Q>P | No |
ClinGen Ensembl |
|
|
CA4733378 rs754838969 |
374 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA176011308 rs527716146 |
375 | S>G | No |
ClinGen 1000Genomes |
|
|
CA176011286 COSM1100035 rs1055093172 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371097321 rs1166268453 |
381 | R>C | No |
ClinGen gnomAD |
|
|
COSM3834750 rs1331009542 CA371097320 |
381 | R>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA371097304 rs1185417891 |
384 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1185417891 CA371097303 |
384 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4733374 rs769623826 |
386 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4733373 rs757370573 |
387 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs757370573 CA371097280 |
387 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1586024612 CA371097260 |
390 | T>P | No |
ClinGen Ensembl |
|
|
CA371097253 rs1586024598 |
391 | A>T | No |
ClinGen Ensembl |
|
|
CA4733369 rs753034307 |
399 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371097195 rs532263007 |
400 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116194858 CA4733367 |
400 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4733366 rs116194858 RCV000909374 |
400 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs532263007 CA4733365 |
400 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4733364 rs762584113 |
403 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4733363 rs772953742 |
404 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395863966 CA371097168 COSM1457170 |
405 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA371097160 rs1442328985 |
406 | D>V | No |
ClinGen TOPMed |
|
|
rs1244595217 CA371097163 |
406 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463457442 CA371097154 |
407 | S>L | No |
ClinGen gnomAD |
|
|
CA176011216 rs917367482 |
408 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747841902 CA4733361 |
408 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972449015 CA176011194 |
409 | A>T | No |
ClinGen Ensembl |
|
|
rs1450673879 CA371097082 |
418 | G>D | No |
ClinGen TOPMed |
|
|
CA4733359 rs768552976 |
419 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA371097071 rs1237009064 |
420 | T>A | No |
ClinGen gnomAD |
|
|
CA4733358 rs746862912 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371097063 rs1209037968 |
421 | V>A | No |
ClinGen gnomAD |
|
|
CA4733356 rs757283528 COSM241625 |
421 | V>M | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1217920062 CA371097062 |
422 | S>T | No |
ClinGen gnomAD |
|
|
rs777876972 CA4733354 |
426 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4733353 rs756327679 |
427 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371097025 rs1319836748 |
427 | R>T | No |
ClinGen gnomAD |
|
|
rs773208227 CA176011114 COSM3382257 |
429 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA176011121 rs773208227 |
429 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751972151 CA4733349 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4733350 rs773208227 |
429 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA176011102 rs920439006 |
430 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159989634 CA371096990 |
433 | Y>H | No |
ClinGen gnomAD |
|
|
CA371096974 rs1379261263 |
435 | S>N | No |
ClinGen gnomAD |
|
|
RCV000485134 rs1064795684 CA16618643 |
436 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763605720 CA4733347 |
436 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4733346 rs772818663 |
437 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs764906136 CA176011084 |
437 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs764906136 CA4733345 |
437 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1447407995 CA371096950 |
439 | A>T | No |
ClinGen gnomAD |
|
|
CA176011064 rs768856025 |
439 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1371852874 CA371096942 |
440 | V>A | No |
ClinGen TOPMed |
|
|
CA4733342 rs768268883 |
440 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA371096938 rs1477753053 |
441 | A>T | No |
ClinGen TOPMed |
|
|
rs746847751 CA4733341 |
443 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371096917 rs1586023503 |
444 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 445 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274814812 CA371096906 |
446 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1274814812 CA371096905 |
446 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA371096896 rs1563453123 |
447 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1328659904 CA371096887 |
448 | E>D | No |
ClinGen gnomAD |
|
|
rs1381940946 CA371096874 |
450 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4733337 rs541110550 |
451 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1586023289 CA371096870 |
451 | G>D | No |
ClinGen Ensembl |
|
|
CA4733338 rs541110550 |
451 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370095133 CA176010996 |
452 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA371096867 rs370095133 |
452 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA371096851 rs1171980726 |
454 | M>T | No |
ClinGen gnomAD |
|
|
rs372750318 CA371096829 |
457 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201148539 CA4733335 |
457 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4733334 rs372750318 |
457 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896549052 CA176010959 |
458 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371096819 rs1586023096 |
459 | E>G | No |
ClinGen Ensembl |
|
|
rs1586023060 CA371096800 |
462 | D>A | No |
ClinGen Ensembl |
|
|
CA4733330 rs758967138 |
463 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs751023800 CA4733329 |
464 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260038071 CA371096778 |
465 | Q>H | No |
ClinGen TOPMed |
|
|
CA371096772 rs1278033204 |
466 | P>L | No |
ClinGen gnomAD |
|
|
RCV000760455 rs1563452873 CA371096770 |
467 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761411962 CA4733327 |
467 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371096754 rs763824699 |
469 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141548800 CA176010934 |
469 | D>N | No |
ClinGen ESP |
|
|
CA4733324 rs760291428 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371096740 rs1313154632 |
472 | E>K | No |
ClinGen gnomAD |
|
|
rs1456893360 CA371096737 |
472 | E>V | No |
ClinGen gnomAD |
|
|
CA371096728 rs1479493634 |
473 | E>V | No |
ClinGen TOPMed |
|
|
rs369424739 CA4733322 |
474 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775320928 CA4733323 |
474 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759413136 CA4733321 |
475 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs759413136 CA4733320 |
475 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
CA4733318 rs373069060 |
477 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79577461 CA371096681 |
480 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371096676 rs1484831902 |
481 | P>S | No |
ClinGen gnomAD |
|
|
rs1205325700 CA371096653 |
484 | H>P | No |
ClinGen gnomAD |
|
|
rs1205325700 CA371096654 |
484 | H>R | No |
ClinGen gnomAD |
|
|
rs768894097 CA4733311 |
485 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1002191714 CA176010881 |
485 | L>P | No |
ClinGen Ensembl |
|
|
CA371096642 rs1271589488 |
486 | L>P | No |
ClinGen gnomAD |
|
|
CA371096635 rs1335981385 |
487 | F>L | No |
ClinGen gnomAD |
|
|
CA4733307 rs750893976 |
492 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586022347 CA371096593 |
494 | T>P | No |
ClinGen Ensembl |
|
|
CA4733304 rs753362754 |
495 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA371096582 rs1465059269 |
496 | C>S | No |
ClinGen gnomAD |
|
|
rs1283369331 CA371096187 |
509 | N>S | No |
ClinGen gnomAD |
|
|
CA371096180 rs1284064438 |
510 | A>V | No |
ClinGen TOPMed |
|
|
rs1305589876 CA371096170 |
512 | G>S | No |
ClinGen gnomAD |
|
|
rs1009450339 CA176006666 |
517 | L>S | No |
ClinGen Ensembl |
|
|
rs752310621 CA4733282 |
519 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371096125 rs755586555 |
519 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751324523 CA4733279 |
520 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4733280 rs754675031 |
520 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205699151 CA371096116 |
521 | Y>H | No |
ClinGen TOPMed |
|
|
rs766155599 CA4733278 |
523 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1433144063 CA371096086 |
525 | G>E | No |
ClinGen gnomAD |
|
|
CA4733276 rs112198681 |
525 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764166763 CA4733275 |
526 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4733271 rs746129118 |
528 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA371096062 rs1281873500 |
529 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371096060 rs142560741 |
529 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754255186 CA176006632 |
530 | A>T | No |
ClinGen TOPMed |
|
|
rs138052637 CA4733269 |
532 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733267 rs755604221 |
534 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755604221 CA4733266 |
534 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371096030 rs1554546830 COSM1100032 RCV000579206 |
535 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA4733264 rs780720351 |
541 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4733263 rs754621835 |
542 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766137862 CA4733261 |
546 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355688015 CA371095948 |
548 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4733258 rs765109519 |
551 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4733259 rs765109519 |
551 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs377123419 CA176006465 |
556 | I>M | No |
ClinGen ESP |
|
|
rs761887638 CA4733257 |
556 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1461227890 CA371095875 |
559 | M>L | No |
ClinGen gnomAD |
|
|
CA176006458 rs778221059 |
565 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4733255 rs778221059 |
565 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774722437 CA4733253 |
567 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA371095804 rs1277361505 |
570 | S>I | No |
ClinGen gnomAD |
|
|
rs1457119601 CA371095120 |
573 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371095123 rs1162982097 |
573 | T>S | No |
ClinGen gnomAD |
|
|
rs1585997496 CA371095104 |
576 | L>V | No |
ClinGen Ensembl |
|
|
CA4733227 rs779663864 |
577 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA371095094 rs1194149533 |
578 | S>P | No |
ClinGen gnomAD |
|
|
rs1231560325 CA371095084 |
579 | A>V | No |
ClinGen gnomAD |
|
|
CA4733223 rs757128846 |
585 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201815306 CA4733222 |
588 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1238139011 CA371095025 |
589 | G>R | No |
ClinGen gnomAD |
|
|
rs1353076340 CA371095017 |
590 | L>F | No |
ClinGen gnomAD |
|
|
CA371095006 rs1304865552 |
592 | V>L | No |
ClinGen gnomAD |
|
|
rs1367342000 CA371094967 |
597 | C>W | No |
ClinGen TOPMed |
|
|
rs1585967302 CA371094306 |
599 | V>G | No |
ClinGen Ensembl |
|
|
rs1585967225 CA371094288 |
602 | V>G | No |
ClinGen Ensembl |
|
|
rs766868553 CA4733192 |
603 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1320560354 CA371094276 |
605 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563430928 CA371094257 |
607 | W>C | No |
ClinGen Ensembl |
|
|
rs200340427 CA4733190 |
609 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733189 rs770679982 |
609 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs200340427 CA371094247 |
609 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749019768 CA4733188 |
610 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA175998529 rs1014304284 |
611 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773131911 CA4733187 |
611 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs376447185 CA175998521 |
617 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376447185 CA4733184 |
617 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758357927 CA4733183 |
620 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1001310092 CA175998507 |
620 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4733180 rs757461191 |
624 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200761348 CA175998479 |
628 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1489128973 CA371094114 |
630 | V>A | No |
ClinGen TOPMed |
|
|
rs148276686 CA4733177 |
630 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148276686 CA4733178 |
630 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4733176 rs753102688 |
632 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs147025172 CA4733174 |
633 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA371094101 rs147025172 |
633 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs751111138 CA4733173 |
635 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4733172 rs766044836 |
636 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs773007074 CA4733170 |
638 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA371094060 rs1379091490 |
640 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371094059 rs1379091490 |
640 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769438444 CA4733169 |
641 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776337625 CA4733167 |
645 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000879228 rs115580154 CA4733168 |
645 | M>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 647 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 647 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413293689 CA371093970 |
653 | V>L | No |
ClinGen gnomAD |
1 associated diseases with Q08357
[MIM: 213600]: Basal ganglia calcification, idiopathic, 1 (IBGC1)
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:22327515, ECO:0000269|PubMed:23334463, ECO:0000269|PubMed:23406454, ECO:0000269|PubMed:23939468, ECO:0000269|PubMed:24065723, ECO:0000269|PubMed:24463626, ECO:0000269|PubMed:25284758}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:22327515, ECO:0000269|PubMed:23334463, ECO:0000269|PubMed:23406454, ECO:0000269|PubMed:23939468, ECO:0000269|PubMed:24065723, ECO:0000269|PubMed:24463626, ECO:0000269|PubMed:25284758}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q08357
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q08357 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| inorganic phosphate transmembrane transporter activity | Enables the transfer of a inorganic phosphate from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| sodium:phosphate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + phosphate(out) = Na+(in) + phosphate(in). |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| phosphate ion transmembrane transport | The process in which a phosphate is transported across a membrane. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O97596 | Slc20a1 | Sodium-dependent phosphate transporter 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q95L97 | SLC20A2 | Sodium-dependent phosphate transporter 2 | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q8WUM9 | SLC20A1 | Sodium-dependent phosphate transporter 1 | Homo sapiens (Human) | PR |
| Q61609 | Slc20a1 | Sodium-dependent phosphate transporter 1 | Mus musculus (Mouse) | PR |
| Q5BL44 | slc20a1 | Sodium-dependent phosphate transporter 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMDEYLWMV | ILGFIIAFIL | AFSVGANDVA | NSFGTAVGSG | VVTLRQACIL | ASIFETTGSV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLGAKVGETI | RKGIIDVNLY | NETVETLMAG | EVSAMVGSAV | WQLIASFLRL | PISGTHCIVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STIGFSLVAI | GTKGVQWMEL | VKIVASWFIS | PLLSGFMSGL | LFVLIRIFIL | KKEDPVPNGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RALPVFYAAT | IAINVFSIMY | TGAPVLGLVL | PMWAIALISF | GVALLFAFFV | WLFVCPWMRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KITGKLQKEG | ALSRVSDESL | SKVQEAESPV | FKELPGAKAN | DDSTIPLTGA | AGETLGTSEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSAGSHPRAA | YGRALSMTHG | SVKSPISNGT | FGFDGHTRSD | GHVYHTVHKD | SGLYKDLLHK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IHIDRGPEEK | PAQESNYRLL | RRNNSYTCYT | AAICGLPVHA | TFRAADSSAP | EDSEKLVGDT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSYSKKRLRY | DSYSSYCNAV | AEAEIEAEEG | GVEMKLASEL | ADPDQPREDP | AEEEKEEKDA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PEVHLLFHFL | QVLTACFGSF | AHGGNDVSNA | IGPLVALWLI | YKQGGVTQEA | ATPVWLLFYG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GVGICTGLWV | WGRRVIQTMG | KDLTPITPSS | GFTIELASAF | TVVIASNIGL | PVSTTHCKVG |
| 610 | 620 | 630 | 640 | 650 | |
| SVVAVGWIRS | RKAVDWRLFR | NIFVAWFVTV | PVAGLFSAAV | MALLMYGILP | YV |