O43559
PR
Gene name |
FRS3 |
Protein name |
Fibroblast growth factor receptor substrate 3 |
Names |
Herpes virus entry mediator ligand, HVEM-L, Herpesvirus entry mediator ligand, FGFR substrate 3, FGFR-signaling adaptor SNT2, Suc1-associated neurotrophic factor target 2, SNT-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10817 |
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
5 structures for O43559
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KUP | NMR | - | A | 8-146 | PDB |
| 2KUQ | NMR | - | A | 8-120 | PDB |
| 2YS5 | NMR | - | A | 8-146 | PDB |
| 2YT2 | NMR | - | A | 8-120 | PDB |
| AF-O43559-F1 | Predicted | AlphaFoldDB |
470 variants for O43559
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1484200406 CA364076885 |
4 | C>R | No |
ClinGen gnomAD |
|
|
rs1209216754 CA364076813 |
9 | N>S | No |
ClinGen gnomAD |
|
|
rs927749156 CA138076074 |
12 | S>N | No |
ClinGen Ensembl |
|
|
rs752645298 CA3802569 |
12 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370711609 CA3802570 |
12 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802566 rs367802861 |
13 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802567 rs367802861 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1697226 CA364076725 rs1168380048 |
14 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA138076026 rs966392757 |
15 | D>H | No |
ClinGen Ensembl |
|
|
rs760975374 CA3802563 |
18 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA364076653 rs760975374 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364076664 rs1442290742 |
18 | P>T | No |
ClinGen TOPMed |
|
|
rs1186116795 CA364076632 |
19 | T>I | No |
ClinGen gnomAD |
|
|
CA138076018 rs1032441268 |
20 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3802560 rs761758699 |
20 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802561 rs767674835 |
20 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1170471569 CA364076571 |
22 | K>R | No |
ClinGen TOPMed |
|
|
rs941358147 CA138074502 |
29 | E>D | No |
ClinGen TOPMed |
|
|
CA364075650 rs1325901373 |
30 | G>E | No |
ClinGen gnomAD |
|
|
rs747840287 CA3802531 |
30 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA364075627 rs1324035438 |
32 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1458885223 CA364075610 |
33 | L>R | No |
ClinGen gnomAD |
|
|
CA364075601 rs1159782583 |
35 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581971068 CA364075586 |
37 | V>G | No |
ClinGen Ensembl |
|
|
CA364075589 rs1469521212 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs768270542 CA3802529 |
38 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA364075572 rs909908586 |
39 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA138074480 rs909908586 |
39 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3802527 rs140401408 |
41 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148182656 CA3802525 |
42 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364075548 rs1268155257 |
43 | S>N | No |
ClinGen gnomAD |
|
|
rs781139806 CA3802524 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA364075518 rs1581971034 |
48 | H>P | No |
ClinGen Ensembl |
|
|
COSM1079251 CA138074458 rs994219001 |
48 | H>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs372090161 CA3802519 |
50 | H>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs763137177 CA3802520 |
50 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3802518 rs199704401 |
51 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3802517 rs760046859 |
52 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA3802516 rs544857762 |
52 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM123255 rs544857762 CA364075496 |
52 | R>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs376525287 CA138074421 |
54 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs200285392 CA3802512 |
55 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200285392 COSM1079250 CA3802513 |
55 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3802511 rs201705767 |
56 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174159873 CA364075476 |
56 | R>H | No |
ClinGen gnomAD |
|
|
rs1174159873 CA364075474 |
56 | R>L | No |
ClinGen gnomAD |
|
|
CA364075428 rs1191388573 |
63 | R>W | No |
ClinGen gnomAD |
|
|
rs1490882300 CA364075422 |
64 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1450903987 COSM3697865 CA364075421 |
64 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3802509 rs372624076 |
65 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364075417 rs1248115494 |
65 | Y>H | No |
ClinGen gnomAD |
|
|
CA364075399 rs143028177 |
67 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313363887 CA364075401 |
67 | Y>C | No |
ClinGen Ensembl |
|
|
CA364075395 rs1581970878 |
68 | D>A | No |
ClinGen Ensembl |
|
|
rs1347583745 CA364075391 |
68 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3802506 rs757127232 |
68 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA364075386 rs1278569423 |
69 | S>C | No |
ClinGen gnomAD |
|
|
rs1309830246 CA364075390 |
69 | S>P | No |
ClinGen TOPMed |
|
|
rs1581970857 CA364075384 |
70 | N>H | No |
ClinGen Ensembl |
|
|
CA3802505 rs375616000 |
70 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375616000 CA364075381 |
70 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343055022 CA364075363 CA364075364 |
72 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA364075369 rs1581970842 |
72 | F>L | No |
ClinGen Ensembl |
|
|
rs1581970831 CA364075349 |
74 | F>L | No |
ClinGen Ensembl |
|
|
CA364075333 rs1581970821 |
76 | S>R | No |
ClinGen Ensembl |
|
|
CA364075328 rs1581970808 |
77 | G>A | No |
ClinGen Ensembl |
|
|
rs1452021280 CA364075332 |
77 | G>S | No |
ClinGen TOPMed |
|
|
CA364075324 rs1269683198 |
78 | R>C | No |
ClinGen gnomAD |
|
|
CA3802504 rs778007945 |
78 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364075319 rs1581970791 |
79 | R>Q | No |
ClinGen Ensembl |
|
|
rs1324682464 CA364075304 |
81 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs913291656 CA138074358 |
82 | T>A | No |
ClinGen Ensembl |
|
|
CA3802503 rs758566840 |
82 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3802480 rs374582441 |
90 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1444507 CA3802479 rs756592782 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs373851277 COSM77733 CA138072418 |
93 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs201592419 CA3802478 |
98 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802477 rs181895663 |
99 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181895663 CA138072392 |
99 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762682572 CA3802476 |
100 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802475 rs775334175 |
103 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA138072374 rs968211909 |
103 | D>N | No |
ClinGen Ensembl |
|
|
rs1334153347 CA364074742 |
106 | Q>R | No |
ClinGen gnomAD |
|
|
rs764812166 CA3802474 |
107 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1022439534 CA364074727 |
108 | N>I | No |
ClinGen gnomAD |
|
|
rs1022439534 CA138072361 |
108 | N>S | No |
ClinGen gnomAD |
|
|
CA3802473 rs759081151 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3802469 rs773053137 |
115 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3802468 rs771911023 |
116 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748346341 CA3802467 |
116 | P>L | No |
ClinGen ExAC |
|
|
rs780434483 CA3802466 |
118 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581969037 CA364074617 |
118 | I>V | No |
ClinGen Ensembl |
|
|
CA3802465 rs139157201 |
119 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1581969019 CA364074588 |
120 | T>P | No |
ClinGen Ensembl |
|
|
CA3802463 rs545980178 COSM77732 |
121 | R>C | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3802462 rs780003701 |
121 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA138072230 rs780003701 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756641788 CA3802461 |
123 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1467177578 CA364074497 |
126 | A>D | No |
ClinGen gnomAD |
|
|
rs143780383 CA364074502 |
126 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143780383 CA3802458 |
126 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752006777 CA364074479 |
127 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138072168 rs1036684575 |
127 | E>K | No |
ClinGen Ensembl |
|
|
CA364074457 rs1581968943 |
129 | D>A | No |
ClinGen Ensembl |
|
|
CA364074449 rs1348254918 |
129 | D>E | No |
ClinGen TOPMed |
|
|
rs1408899482 CA364074434 |
131 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759270646 CA3802455 |
132 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3802456 rs759270646 |
132 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA138072139 rs897551170 |
133 | A>T | No |
ClinGen TOPMed |
|
|
CA138072130 rs887618554 |
133 | A>V | No |
ClinGen Ensembl |
|
|
rs765869340 CA3802453 |
134 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3802454 rs753319695 |
134 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751014865 | 135 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138072107 rs1048851637 |
136 | P>T | No |
ClinGen Ensembl |
|
|
rs773070770 CA138072101 |
137 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364074369 rs146730626 |
137 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3802449 rs146730626 |
137 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773070770 CA3802450 |
137 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802448 rs202097982 |
138 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA138071169 rs866173579 |
139 | A>D | No |
ClinGen Ensembl |
|
|
CA364073889 rs1186103678 |
141 | G>D | No |
ClinGen TOPMed |
|
|
rs1486587335 CA364073891 |
141 | G>R | No |
ClinGen gnomAD |
|
|
CA3802413 rs753489129 |
143 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138071144 rs753489129 |
143 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247301530 CA364073874 |
144 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA364073864 rs1484526444 |
145 | S>C | No |
ClinGen gnomAD |
|
|
CA364073857 rs760142051 |
146 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765889251 CA3802412 |
146 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3802410 rs373372889 |
149 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs977738550 CA138071104 |
149 | N>Y | No |
ClinGen TOPMed |
|
|
CA364073835 rs1292773282 |
150 | G>S | No |
ClinGen gnomAD |
|
|
CA138071100 rs868651900 |
151 | C>Y | No |
ClinGen Ensembl |
|
|
CA3802408 rs761743298 |
153 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA364073816 CA3802409 rs767392464 |
153 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364073799 rs1302911808 |
155 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 156 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413315075 CA364073791 |
157 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs370652590 CA138071089 |
157 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364073783 rs1461624408 |
158 | F>Y | No |
ClinGen gnomAD |
|
|
CA3802405 RCV000949298 rs141362880 |
159 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA364073766 rs1476181243 |
161 | P>H | No |
ClinGen gnomAD |
|
|
CA364073762 rs199959552 |
162 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802403 rs199959552 |
162 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802404 rs200237587 |
162 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145362774 CA3802402 |
163 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138071073 rs748315116 |
163 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs557171378 CA3802400 |
165 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs557171378 CA3802401 |
165 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1336194775 CA364073747 |
166 | T>A | No |
ClinGen gnomAD |
|
|
CA364073740 rs1293179134 |
167 | S>G | No |
ClinGen gnomAD |
|
|
rs1352738025 CA364073726 |
168 | S>R | No |
ClinGen gnomAD |
|
|
CA364073718 rs1041639064 |
170 | R>L | No |
ClinGen gnomAD |
|
|
CA138071039 rs1041639064 |
170 | R>Q | No |
ClinGen gnomAD |
|
|
rs113605542 CA138071046 |
170 | R>W | No |
ClinGen gnomAD |
|
|
CA138071036 rs940200018 |
171 | H>P | No |
ClinGen TOPMed |
|
|
rs1462002749 CA364073717 |
171 | H>Y | No |
ClinGen gnomAD |
|
|
CA3802397 rs74687105 |
172 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802398 RCV000963172 rs147233844 |
172 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA364073701 rs1365331515 |
173 | S>L | No |
ClinGen gnomAD |
|
|
CA364073691 rs1335929111 |
175 | G>A | No |
ClinGen TOPMed |
|
|
CA3802393 rs528491099 |
175 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1581967929 CA364073671 |
178 | S>A | No |
ClinGen Ensembl |
|
|
CA3802392 rs749877311 |
179 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143921336 CA3802391 |
180 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1581967912 CA364073660 |
180 | H>Y | No |
ClinGen Ensembl |
|
|
CA364073652 rs1353386430 |
181 | A>D | No |
ClinGen gnomAD |
|
|
rs906762648 CA138070936 |
183 | I>V | No |
ClinGen TOPMed |
|
|
CA364073637 rs1238777023 |
184 | A>T | No |
ClinGen gnomAD |
|
|
rs1334245476 CA364073632 |
184 | A>V | No |
ClinGen gnomAD |
|
|
rs1221774954 CA364073626 |
185 | P>L | No |
ClinGen TOPMed |
|
|
rs763920539 CA3802388 |
186 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs150824390 CA3802389 |
186 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762618511 CA3802387 |
187 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760799697 CA364073589 |
189 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760799697 CA3802364 |
189 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760799697 CA3802365 |
189 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773366143 CA3802363 |
191 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773366143 CA364073577 |
191 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364073571 rs1409426310 |
192 | Y>C | No |
ClinGen gnomAD |
|
|
CA138070455 rs767637639 |
193 | V>A | No |
ClinGen Ensembl |
|
|
CA3802361 rs200242322 |
196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA364073548 rs1226610257 |
196 | P>S | No |
ClinGen gnomAD |
|
|
rs1226610257 CA364073546 |
196 | P>T | No |
ClinGen gnomAD |
|
|
rs1271651705 CA364073534 |
197 | A>V | No |
ClinGen TOPMed |
|
|
CA3802359 rs769112764 |
198 | S>G | No |
ClinGen ExAC |
|
|
CA3802358 rs751765291 |
200 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3802357 rs780781377 |
202 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756922101 CA3802356 |
203 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746455483 CA3802355 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746455483 CA364073454 |
203 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777337475 CA3802354 |
205 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs758259654 CA3802353 |
206 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752741564 CA3802352 |
206 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs752741564 CA364073414 |
206 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1162552134 CA364073387 |
207 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138070348 rs112111940 |
208 | C>Y | No |
ClinGen Ensembl |
|
|
CA3802350 rs754863883 |
210 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138070285 rs766183352 |
213 | P>S | No |
ClinGen Ensembl |
|
|
CA3802349 rs753719853 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1194135434 CA364073257 |
217 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760992457 CA3802347 |
218 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1233773473 CA364073242 |
219 | F>V | No |
ClinGen gnomAD |
|
|
rs3747747 CA3802345 VAR_033855 |
221 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138079167 CA3802341 |
224 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770500682 CA3802339 |
224 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138079167 CA3802340 |
224 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179260806 CA364073155 |
226 | P>L | No |
ClinGen gnomAD |
|
|
CA3802337 rs45465093 |
226 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771664907 CA3802336 |
227 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs953956294 CA138070149 |
229 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs149311369 CA3802334 |
229 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364073102 rs1452628617 |
231 | P>T | No |
ClinGen TOPMed |
|
|
rs753630899 CA3802332 |
232 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA364073078 rs1287543894 |
232 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1328605812 CA364073067 |
233 | V>A | No |
ClinGen TOPMed |
|
|
rs138673129 CA3802330 |
234 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750706880 CA3802329 |
237 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364072990 rs1220466100 |
239 | Q>E | No |
ClinGen TOPMed |
|
|
rs767463234 CA3802328 |
239 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA364072973 rs1331383019 |
240 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA138070081 rs965414071 |
242 | F>L | No |
ClinGen Ensembl |
|
|
rs751611880 CA3802326 |
243 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs761911304 CA3802327 |
243 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1440838108 CA364072903 |
245 | G>V | No |
ClinGen gnomAD |
|
|
CA3802325 rs764525337 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202151715 CA138070035 |
247 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202151715 CA3802323 |
247 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364072876 rs1191254893 |
248 | P>A | No |
ClinGen TOPMed |
|
|
CA3802321 rs532704379 |
249 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3802319 rs769240284 |
250 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200303747 CA3802320 |
250 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137923290 CA138069950 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
COSM4155227 rs200599287 CA3802317 |
251 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA364072831 rs1317318047 |
252 | H>Y | No |
ClinGen gnomAD |
|
|
CA364072806 rs1457695493 |
253 | M>I | No |
ClinGen gnomAD |
|
|
CA364072800 rs1283243624 |
254 | V>M | No |
ClinGen gnomAD |
|
|
rs749304627 CA3802315 |
256 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1303580212 CA364072755 |
257 | Q>K | No |
ClinGen gnomAD |
|
|
rs1232923110 CA364072749 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
rs370835870 CA138069923 |
261 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779972215 CA3802314 |
261 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364072685 rs1344978084 |
262 | S>G | No |
ClinGen gnomAD |
|
|
CA364072669 rs1296676209 |
263 | L>P | No |
ClinGen gnomAD |
|
|
rs1395921065 CA364072652 |
264 | H>R | No |
ClinGen gnomAD |
|
|
rs199883529 CA138069898 |
266 | P>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs751587190 CA364072615 |
267 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3802308 rs368454025 |
267 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802307 rs368454025 |
267 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802309 rs751587190 |
267 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs937725881 CA138069881 |
268 | H>P | No |
ClinGen gnomAD |
|
|
CA3802306 rs753256771 |
269 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376907371 CA3802304 COSM1621643 |
270 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs376907371 CA3802305 |
270 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802303 rs776884574 |
271 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802302 rs767141975 |
271 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761378284 CA3802301 |
272 | N>D | No |
ClinGen ExAC |
|
|
CA3802300 rs773994466 |
272 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749206431 CA3802298 |
274 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3802299 rs768339772 |
274 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775528221 CA3802297 |
275 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376349019 CA364072554 |
276 | P>L | No |
ClinGen gnomAD |
|
|
rs1217216298 CA364072538 |
279 | C>R | No |
ClinGen gnomAD |
|
|
CA364072534 rs1312525816 |
279 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs913808081 CA138069822 |
281 | A>V | No |
ClinGen gnomAD |
|
|
CA3802293 rs757494977 |
283 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364072510 rs1422824464 |
283 | P>S | No |
ClinGen gnomAD |
|
|
rs1476051213 CA364072503 |
284 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1266331378 CA364072495 |
285 | C>Y | No |
ClinGen gnomAD |
|
|
CA3802292 rs747286723 |
286 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747286723 CA364072486 |
286 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364072452 rs1256694040 |
290 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1300929858 CA364072436 |
292 | G>E | No |
ClinGen TOPMed |
|
|
CA3802287 rs754166064 CA3802286 |
292 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802284 rs200811439 |
293 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303741448 CA364072432 |
293 | G>R | No |
ClinGen gnomAD |
|
| rs768098936 | 294 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364072415 rs1019634583 |
295 | W>G | No |
ClinGen Ensembl |
|
|
CA138069756 rs1019634583 |
295 | W>R | No |
ClinGen Ensembl |
|
|
rs1365305498 CA364072394 |
296 | R>* | No |
ClinGen gnomAD |
|
|
rs370139472 CA3802281 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364072388 rs1399520821 |
297 | G>R | No |
ClinGen gnomAD |
|
|
rs775151752 CA3802279 |
298 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA364072375 rs1418325990 |
299 | G>S | No |
ClinGen gnomAD |
|
|
CA3802278 rs143790685 |
303 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802277 rs745857464 |
304 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421757297 CA364072297 |
304 | P>S | No |
ClinGen gnomAD |
|
|
rs1238330095 CA364072278 |
306 | E>K | No |
ClinGen TOPMed |
|
|
CA3802276 COSM1621642 rs776470493 |
307 | P>L | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364072263 rs776470493 |
307 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255561452 CA364072237 |
309 | W>* | No |
ClinGen gnomAD |
|
|
rs1255561452 CA364072235 |
309 | W>C | No |
ClinGen gnomAD |
|
|
rs1224953826 CA364072206 |
312 | L>F | No |
ClinGen TOPMed |
|
|
rs199617871 CA3802273 |
313 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA138069732 rs199617871 |
313 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364072193 rs1265282218 |
314 | H>D | No |
ClinGen gnomAD |
|
|
CA3802271 rs748170636 |
314 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3802272 rs200632162 |
314 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778865534 CA3802270 |
315 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3802269 rs149005083 |
315 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802268 rs754360826 |
316 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802267 rs35744673 |
316 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA138069710 rs754360826 |
316 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138069670 rs201048548 |
318 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA138069677 rs201048548 |
318 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1384242258 CA364072109 |
322 | Y>C | No |
ClinGen TOPMed |
|
|
rs558584270 CA3802264 |
323 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364072089 rs1299384229 |
324 | N>S | No |
ClinGen TOPMed |
|
|
CA364072081 rs1393748355 |
325 | L>P | No |
ClinGen TOPMed |
|
|
CA364072083 rs1438617023 |
325 | L>V | No |
ClinGen gnomAD |
|
|
CA364072077 rs1235840094 |
326 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138069654 rs892427733 |
327 | P>Q | No |
ClinGen TOPMed |
|
|
CA3802263 rs762698540 |
327 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201264124 CA3802261 |
328 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770935213 CA3802258 |
329 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs770935213 CA3802259 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3802256 rs773006648 |
330 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364072060 rs773006648 |
330 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364072061 rs773006648 |
330 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802255 rs140685208 |
331 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483652697 CA364072046 |
332 | W>L | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364072031 rs1235077427 |
334 | S>N | No |
ClinGen gnomAD |
|
|
CA138069611 rs200212382 |
335 | Q>R | No |
ClinGen Ensembl |
|
|
rs748438007 CA3802254 |
336 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936543110 CA138069608 |
338 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 340 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479711911 CA364071994 |
340 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364071959 rs1257490893 |
345 | D>G | No |
ClinGen TOPMed |
|
|
rs902780280 CA138069581 |
345 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs749416326 CA3802251 |
346 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA364071945 rs1175016473 |
347 | G>E | No |
ClinGen gnomAD |
|
|
rs1311763883 CA364071939 |
348 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3802249 rs756700201 |
348 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802248 rs376353358 |
349 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367057937 CA364071919 |
351 | D>V | No |
ClinGen gnomAD |
|
|
rs373451404 CA138069547 |
352 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758107928 CA3802246 |
355 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs951383631 CA138069532 |
356 | S>T | No |
ClinGen TOPMed |
|
|
CA3802244 rs150770464 |
358 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758933490 CA3802243 |
359 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3802241 rs766172012 |
361 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399128541 CA364071851 |
362 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1400877535 COSM451447 CA364071819 |
367 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA364071807 rs1476712489 |
368 | T>I | No |
ClinGen gnomAD |
|
|
rs772988333 CA3802239 |
368 | T>S | No |
ClinGen ExAC |
|
| TCGA novel | 369 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193459126 CA364071804 |
369 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771914999 CA3802238 |
374 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071769 rs1188934330 |
374 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364071771 rs1188934330 |
374 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364071760 rs1581966609 |
376 | T>P | No |
ClinGen Ensembl |
|
|
CA364071753 rs1276655445 |
377 | R>Q | No |
ClinGen gnomAD |
|
|
rs762000716 CA3802237 |
377 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364071745 rs1263897930 |
378 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768943329 CA3802235 |
379 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071738 rs1262890272 |
380 | I>V | No |
ClinGen TOPMed |
|
|
CA3802234 rs749268661 |
381 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802233 COSM1546288 rs373318996 |
381 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs111464322 CA364071712 |
384 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA364071710 rs1424833189 |
384 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs111464322 CA138069473 |
384 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364071694 rs1331676404 |
386 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746432082 CA3802231 |
386 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1561889725 CA364071685 |
388 | V>M | No |
ClinGen Ensembl |
|
|
CA364071678 rs1389053686 |
389 | P>S | No |
ClinGen TOPMed |
|
|
rs1581966504 CA364071669 |
391 | T>P | No |
ClinGen Ensembl |
|
|
rs757731877 CA3802229 |
392 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757731877 CA364071662 |
392 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148685960 CA3802228 |
392 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802227 rs201392291 |
393 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3802226 rs754676624 |
393 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA364071656 rs754676624 |
393 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3802225 rs372825044 |
394 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3802224 rs765943962 |
394 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3802222 rs750411279 |
395 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3802221 rs767269665 |
396 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1315924431 CA364071646 |
396 | S>P | No |
ClinGen gnomAD |
|
|
CA3802220 rs774209432 |
397 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774209432 CA364071641 |
397 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802219 rs774209432 |
397 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282093222 CA364071637 |
398 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs369539341 CA3802218 |
399 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936595074 CA138069386 |
399 | V>L | No |
ClinGen Ensembl |
|
|
CA364071617 rs1377003580 |
401 | N>D | No |
ClinGen gnomAD |
|
|
CA364071615 rs1222832372 |
401 | N>S | No |
ClinGen TOPMed |
|
|
rs142682061 CA3802217 COSM741926 |
405 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3802216 rs775415683 |
405 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071584 rs775415683 |
405 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071579 rs1405113906 |
406 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1634798 rs1405113906 CA364071581 |
406 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs770041090 CA3802215 |
406 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777234512 CA3802213 |
407 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802214 rs746342094 |
407 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747282093 CA3802211 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1456418511 CA364071563 |
410 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs185330233 CA138069291 |
411 | P>S | No |
ClinGen 1000Genomes |
|
|
CA364071546 rs1450854032 |
412 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 412 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364071547 rs1450854032 |
412 | P>Q | No |
ClinGen gnomAD |
|
|
CA3802209 rs754585539 |
412 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168288358 CA364071544 |
413 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364071534 rs1225133208 |
414 | Q>R | No |
ClinGen gnomAD |
|
|
CA3802208 rs749028496 CA364071492 |
420 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071488 rs1237281549 |
421 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779519233 CA3802207 |
423 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3802206 rs755660918 |
427 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA364071447 rs1458884708 |
427 | G>R | No |
ClinGen gnomAD |
|
|
rs1436338610 CA364071438 |
428 | D>G | No |
ClinGen gnomAD |
|
|
rs369896862 CA3802205 COSM1079247 |
429 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767384110 CA3802204 COSM3830500 |
429 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757223319 CA3802203 |
430 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs1252612265 CA364071424 |
431 | K>E | No |
ClinGen gnomAD |
|
|
rs1420604495 CA364071414 |
432 | G>E | No |
ClinGen gnomAD |
|
|
CA3802201 rs200002633 |
433 | P>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs751306785 CA3802202 |
433 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364071406 rs1581966243 |
434 | Q>E | No |
ClinGen Ensembl |
|
|
CA138069204 rs1008382609 |
434 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364071393 rs1221060510 |
435 | N>K | No |
ClinGen TOPMed |
|
|
rs1156983718 CA364071391 |
436 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1156983718 CA364071390 |
436 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs57289703 CA3802199 |
437 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1581966221 CA364071385 |
437 | S>P | No |
ClinGen Ensembl |
|
|
rs1028068707 CA138069178 |
439 | P>L | No |
ClinGen TOPMed |
|
|
rs776868521 CA3802196 |
440 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364071368 rs776868521 |
440 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267197467 CA364071366 |
440 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1267197467 CA364071365 |
440 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3802194 rs761314357 |
441 | A>S | No |
ClinGen ExAC |
|
|
CA364071357 rs1488433631 |
441 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201687292 CA3802192 |
442 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3802193 rs773439380 |
442 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302624769 CA364071352 |
443 | M>L | No |
ClinGen TOPMed |
|
|
rs267601032 CA138069158 |
446 | T>I | No |
ClinGen Ensembl |
|
|
rs1219171255 CA364071315 |
448 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs561176382 CA3802191 |
448 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779642151 CA3802190 |
450 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3830499 rs769449384 CA3802189 |
450 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs113801307 CA138069128 |
452 | S>A | No |
ClinGen Ensembl |
|
|
CA364071292 rs1400968910 |
452 | S>L | No |
ClinGen gnomAD |
|
|
rs745309580 CA3802188 |
453 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757127616 CA3802186 |
456 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs141634590 CA3802183 |
457 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs887006788 CA138069088 |
461 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs148388051 CA3802182 |
464 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3802180 rs759845275 |
466 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3802179 rs753966448 |
467 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA364071193 rs1358729102 |
468 | N>D | No |
ClinGen Ensembl |
|
|
CA364071148 rs1208811151 |
475 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773809864 CA3802176 |
475 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772489038 CA364071139 |
476 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3802174 rs762117793 |
477 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364071130 rs1412802337 |
478 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs202004280 CA3802173 |
480 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3802171 rs745577374 |
484 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364071064 rs1581965993 |
488 | T>P | No |
ClinGen Ensembl |
|
|
CA138068979 rs991342352 |
488 | T>S | No |
ClinGen TOPMed |
|
|
CA3802166 rs758278191 |
489 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs373596042 CA3802167 |
489 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with O43559
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| fibroblast growth factor receptor binding | Binding to a fibroblast growth factor receptor (FGFR). |
| identical protein binding | Binding to an identical protein or proteins. |
| transmembrane receptor protein tyrosine kinase adaptor activity | The binding activity of a molecule that brings together a transmembrane receptor protein tyrosine kinase and one or more other molecules, permitting them to function in a coordinated way. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8WU20 | FRS2 | Fibroblast growth factor receptor substrate 2 | Homo sapiens (Human) | PR |
| Q8C180 | Frs2 | Fibroblast growth factor receptor substrate 2 | Mus musculus (Mouse) | PR |
| Q91WJ0 | Frs3 | Fibroblast growth factor receptor substrate 3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSCCSCLNR | DSVPDNHPTK | FKVTNVDDEG | VELGSGVMEL | TQSELVLHLH | RREAVRWPYL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLRRYGYDSN | LFSFESGRRC | QTGQGIFAFK | CSRAEEIFNL | LQDLMQCNSI | NVMEEPVIIT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RNSHPAELDL | PRAPQPPNAL | GYTVSSFSNG | CPGEGPRFSA | PRRLSTSSLR | HPSLGEESTH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALIAPDEQSH | TYVNTPASED | DHRRGRHCLQ | PLPEGQAPFL | PQARGPDQRD | PQVFLQPGQV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KFVLGPTPAR | RHMVKCQGLC | PSLHDPPHHN | NNNEAPSECP | AQPKCTYENV | TGGLWRGAGW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLSPEEPGWN | GLAHRRAALL | HYENLPPLPP | VWESQAQQLG | GEAGDDGDSR | DGLTPSSNGF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PDGEEDETPL | QKPTSTRAAI | RSHGSFPVPL | TRRRGSPRVF | NFDFRRPGPE | PPRQLNYIQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELKGWGGDRP | KGPQNPSSPQ | APMPTTHPAR | SSDSYAVIDL | KKTVAMSNLQ | RALPRDDGTA |
| 490 | |||||
| RKTRHNSTDL | PL |