Q9BRG2
PR
Gene name |
SH2D3A (NSP1, UNQ175/PRO201) |
Protein name |
SH2 domain-containing protein 3A |
Names |
Novel SH2-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10045 |
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 Q9BRG2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BRG2-F1 | Predicted | AlphaFoldDB |
563 variants for Q9BRG2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1270017404 CA403645817 |
5 | Q>P | No |
ClinGen gnomAD |
|
|
CA9132064 rs756040574 |
8 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001749221 CA304800812 |
8 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403645691 rs1231783465 |
9 | D>E | No |
ClinGen gnomAD |
|
|
CA403645583 rs748127510 |
14 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748127510 CA9132063 |
14 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304800781 rs574092965 |
15 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9132061 rs574092965 |
15 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557157671 CA9132060 |
15 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304800760 rs8106298 |
16 | Y>N | No |
ClinGen Ensembl |
|
|
rs1025886701 CA304800731 |
17 | H>R | No |
ClinGen TOPMed |
|
|
rs765383588 CA9132059 |
17 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754176794 CA9132057 |
18 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139570316 CA9132056 |
21 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1317424009 CA403645448 |
22 | R>C | No |
ClinGen TOPMed |
|
|
CA9132055 rs761055224 |
22 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304800699 rs1052318330 |
23 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9132054 rs776187036 |
23 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA403644843 rs1203084505 |
24 | K>R | No |
ClinGen gnomAD |
|
|
CA9132033 rs765957448 |
26 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403644828 rs1286584181 |
26 | E>V | No |
ClinGen gnomAD |
|
|
CA403644821 rs762496110 |
27 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9132032 rs762496110 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9132030 rs201681732 |
28 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776494865 CA9132028 |
31 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9132027 VAR_026054 rs7258236 |
32 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1361769998 COSM1397439 CA403644781 |
34 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1225308736 CA403644772 |
35 | F>L | No |
ClinGen TOPMed |
|
|
CA9132026 rs745908479 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778826830 CA9132025 |
37 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201397651 CA9132024 |
38 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749455704 CA9132023 |
38 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7254471 CA9132021 |
39 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477350065 CA403644743 |
40 | S>C | No |
ClinGen gnomAD |
|
|
CA9132020 rs753122669 |
41 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs111881825 CA9132019 |
42 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572061070 CA304798634 |
43 | R>C | No |
ClinGen 1000Genomes |
|
|
CA304798632 rs866094093 |
43 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9132017 rs752160908 |
44 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403644693 rs1599591391 |
46 | N>T | No |
ClinGen Ensembl |
|
|
rs1377702763 CA403644655 |
48 | V>G | No |
ClinGen TOPMed |
|
|
rs893883445 CA304798599 |
48 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762593452 CA9132015 |
49 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304798593 rs976659800 |
49 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 50 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428288541 CA403644632 |
50 | S>Y | No |
ClinGen TOPMed |
|
|
CA9132013 rs201030472 |
51 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764885044 CA9132012 |
52 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761547112 CA9132011 |
52 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304798518 rs146265436 |
54 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9132008 rs146265436 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768478372 CA9132009 COSM1003054 |
54 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9132007 rs775553958 |
55 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770909990 CA9132006 |
56 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988182316 CA304798509 |
58 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs371836476 CA9132005 |
59 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403644443 rs1199714592 |
63 | F>L | No |
ClinGen gnomAD |
|
|
CA9132004 rs777797779 |
63 | F>S | No |
ClinGen ExAC gnomAD |
|
|
COSM179568 rs535033168 CA9132003 |
64 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs562996882 CA9132002 |
64 | R>H | Variant assessed as Somatic; 9.254e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA304798448 rs562996882 |
64 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304798419 rs367560553 |
65 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs1032487660 CA304798411 |
66 | A>D | No |
ClinGen TOPMed |
|
|
rs1240188603 CA403644403 |
66 | A>T | No |
ClinGen TOPMed |
|
|
CA304798406 rs749830561 |
68 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131999 rs185333277 |
68 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749830561 CA9132000 |
68 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275915863 CA403644369 |
69 | P>T | No |
ClinGen gnomAD |
|
|
CA403644346 rs566329999 |
70 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566329999 CA9131997 |
70 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375700170 CA9131998 |
70 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs985784380 CA304798346 |
71 | P>S | No |
ClinGen Ensembl |
|
|
rs953200485 CA304798344 |
72 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403644322 rs1267708928 |
73 | R>* | No |
ClinGen TOPMed |
|
|
COSM1003052 rs764830130 CA9131995 |
73 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1013793715 CA304798336 |
75 | T>I | No |
ClinGen TOPMed |
|
|
CA9131993 rs753537539 |
76 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761425623 CA9131994 |
76 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM233348 rs368368775 CA403644267 |
77 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9131992 rs368368775 |
77 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362204901 CA403644241 |
80 | L>M | No |
ClinGen gnomAD |
|
|
rs1178027420 CA403644226 |
81 | E>G | No |
ClinGen gnomAD |
|
|
rs973571252 CA304798292 |
81 | E>K | No |
ClinGen Ensembl |
|
|
CA9131991 rs141564856 |
82 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403644199 rs1240204720 |
83 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781586587 CA304798265 |
85 | F>L | No |
ClinGen Ensembl |
|
|
CA403644151 rs1392181626 |
86 | P>A | No |
ClinGen TOPMed |
|
|
rs1442243363 CA403644147 |
86 | P>H | No |
ClinGen gnomAD |
|
|
rs138522995 CA9131989 |
89 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403644029 rs1362282856 |
94 | S>I | No |
ClinGen TOPMed |
|
|
CA403644032 rs1362282856 |
94 | S>N | No |
ClinGen TOPMed |
|
|
rs76024146 CA9131985 |
95 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304798241 rs932509223 |
96 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA304798242 rs970941342 |
96 | M>V | No |
ClinGen Ensembl |
|
|
rs1332999955 CA403643962 |
98 | G>S | No |
ClinGen gnomAD |
|
|
CA9131982 rs777064873 |
100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131981 rs769078843 |
100 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9131979 rs780377852 |
101 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747416409 CA9131980 |
101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437206062 CA403643908 |
102 | L>V | No |
ClinGen gnomAD |
|
|
CA9131977 rs571112823 |
104 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9131976 rs778372376 |
104 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA403643847 rs1161674287 |
106 | T>R | No |
ClinGen TOPMed |
|
|
CA403643843 rs1288112422 |
107 | G>R | No |
ClinGen gnomAD |
|
|
CA403643829 rs1462643441 |
108 | A>S | No |
ClinGen TOPMed |
|
|
CA403643819 rs1599590790 |
109 | V>L | No |
ClinGen Ensembl |
|
|
rs893802890 CA304798159 |
110 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403643801 rs1599590760 |
110 | V>G | No |
ClinGen Ensembl |
|
|
rs1428190937 CA403643786 |
111 | S>F | No |
ClinGen gnomAD |
|
|
rs1285884036 CA403643781 |
112 | R>W | No |
ClinGen gnomAD |
|
|
rs547835903 CA9131972 |
115 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 119 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377910178 CA403643638 |
120 | L>M | No |
ClinGen gnomAD |
|
|
CA9131970 rs149620409 |
121 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1449891907 CA403643621 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM2152961 rs767313865 CA9131969 |
122 | R>C | central_nervous_system Variant assessed as Somatic; 4.659e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs372429785 CA9131968 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9131967 rs774491633 |
123 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA403643539 rs1404989748 |
125 | S>G | No |
ClinGen gnomAD |
|
|
CA9131966 rs765407222 COSM1397438 |
126 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 127 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403643476 rs1262894473 |
128 | T>A | No |
ClinGen gnomAD |
|
|
rs138281544 CA9131964 |
134 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138281544 CA9131965 |
134 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768947041 CA403643357 |
135 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747298142 CA9131962 |
135 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768947041 CA9131963 COSM263634 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA403643345 rs969070024 |
136 | I>L | No |
ClinGen TOPMed |
|
|
CA403643333 rs1429665735 |
136 | I>M | No |
ClinGen gnomAD |
|
|
CA9131961 rs150449347 |
136 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304798061 rs969070024 |
136 | I>V | No |
ClinGen TOPMed |
|
|
CA403643310 rs1261428292 |
138 | P>A | No |
ClinGen gnomAD |
|
|
rs992257858 CA304798053 |
138 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320770840 CA403643295 |
140 | R>K | No |
ClinGen gnomAD |
|
|
CA403643296 rs1429166382 |
140 | R>W | No |
ClinGen TOPMed |
|
|
CA9131943 rs142658713 |
142 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403641995 rs1599588627 |
145 | S>N | No |
ClinGen Ensembl |
|
|
CA9131940 rs369847997 |
147 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403641959 rs1347170069 |
150 | A>E | No |
ClinGen gnomAD |
|
|
rs774782123 CA9131939 |
150 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403641941 rs1444849824 |
153 | A>T | No |
ClinGen gnomAD |
|
|
CA403641932 rs1332492619 |
154 | H>P | No |
ClinGen gnomAD |
|
|
rs1399764307 CA403641933 |
154 | H>Y | No |
ClinGen gnomAD |
|
|
rs147966200 CA304797136 |
155 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9131938 rs147966200 |
155 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403641917 rs1376248631 |
156 | G>E | No |
ClinGen gnomAD |
|
|
CA304797128 rs62125124 |
157 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9131935 rs62125124 |
157 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148876828 CA9131936 |
157 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403641910 rs1194884220 |
158 | S>T | No |
ClinGen gnomAD |
|
|
CA403641886 rs747836164 |
161 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111604894 CA304797119 |
161 | D>G | No |
ClinGen Ensembl |
|
|
CA403641890 rs1568267234 |
161 | D>H | No |
ClinGen Ensembl |
|
|
rs779893958 CA403641877 |
163 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779893958 CA9131932 |
163 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131930 rs113786010 COSM1711665 |
164 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs375221432 CA9131931 |
164 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758378965 CA9131929 |
165 | M>T | No |
ClinGen ExAC |
|
|
CA9131908 rs756160935 |
167 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs903599855 CA304791876 |
167 | A>V | No |
ClinGen TOPMed |
|
|
CA403640188 rs1254042519 |
169 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752741001 CA9131907 |
170 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767734841 CA9131906 |
171 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs373438102 CA9131905 |
172 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs76568513 CA9131904 |
173 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403640144 rs1382006247 |
174 | A>S | No |
ClinGen gnomAD |
|
|
rs766713615 CA9131903 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9131901 rs765689594 |
177 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765689594 CA9131900 |
177 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199768523 CA9131899 COSM1003045 |
177 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9131897 rs548861462 |
178 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304791829 rs548861462 |
178 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9131896 rs548861462 |
178 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1186622039 CA403640101 |
181 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403640094 rs1424222952 |
182 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304791815 rs367830219 |
183 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9131892 rs201089047 |
185 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304791812 rs374896032 |
187 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403640063 rs1354532356 |
188 | P>A | No |
ClinGen gnomAD |
|
|
rs1265042682 CA403640059 |
188 | P>L | No |
ClinGen gnomAD |
|
|
rs984771407 CA304791792 |
190 | P>S | No |
ClinGen TOPMed |
|
|
rs952136049 CA304791786 |
191 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs866042600 CA304791780 |
192 | G>E | No |
ClinGen Ensembl |
|
|
CA9131889 rs543050397 |
193 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1341617458 CA403640033 |
194 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1298307739 CA403640022 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs144111577 CA9131886 |
196 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145013085 CA403640021 |
196 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145013085 CA9131887 |
196 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599580733 CA403640007 |
198 | L>F | No |
ClinGen Ensembl |
|
|
rs1471254781 CA403640002 |
198 | L>R | No |
ClinGen gnomAD |
|
|
rs139285655 CA9131885 |
199 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403639998 rs1419840954 |
199 | R>K | No |
ClinGen gnomAD |
|
|
rs1041772393 CA304791759 |
200 | A>G | No |
ClinGen gnomAD |
|
|
rs1168185356 CA403639995 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA403639991 rs1041772393 |
200 | A>V | No |
ClinGen gnomAD |
|
|
rs148100115 CA9131884 |
201 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187868330 CA9131882 |
202 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1266746780 CA403639973 |
203 | G>A | No |
ClinGen gnomAD |
|
|
rs1050195958 CA304791722 |
204 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs141846132 CA9131880 |
205 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9131878 rs777253585 |
208 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9131879 rs762205917 |
208 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403639942 rs1431244783 |
208 | K>T | No |
ClinGen TOPMed |
|
|
rs76213282 CA304791713 |
209 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76213282 CA9131877 |
209 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457824183 CA403639932 |
210 | P>L | No |
ClinGen TOPMed |
|
|
CA403639928 rs1328906531 |
211 | T>A | No |
ClinGen gnomAD |
|
|
CA9131876 rs370715723 |
211 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403639914 rs1396141938 |
213 | P>S | No |
ClinGen gnomAD |
|
|
CA9131874 rs771873595 |
214 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403639908 rs1464870956 |
214 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403639905 rs745635320 |
215 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139813452 CA9131871 |
215 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs745635320 CA9131873 |
215 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131869 rs773982969 |
216 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304791681 rs947759352 |
217 | P>R | No |
ClinGen TOPMed |
|
|
rs770804242 CA9131868 |
217 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749165337 CA9131866 |
218 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131864 CA403639872 rs754996769 |
219 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747117071 CA9131863 |
220 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1179952951 CA403639837 |
222 | P>R | No |
ClinGen TOPMed |
|
|
rs1057009272 CA304791645 |
222 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403639830 rs12608960 |
223 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445554288 CA403639825 |
223 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
VAR_051349 CA9131859 rs12608960 |
223 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9131860 rs750707207 |
223 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9131861 rs750707207 |
223 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9131857 rs754330790 |
225 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148015916 CA9131856 |
227 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369236840 CA9131855 |
227 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9131853 rs143491346 |
229 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376034961 CA9131854 |
229 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9131851 rs774107336 |
230 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9131849 rs199547986 |
232 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403639740 rs1185791254 |
232 | C>F | No |
ClinGen gnomAD |
|
|
CA403639733 rs1213604334 |
233 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA304791595 rs143255377 COSM1225549 |
233 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA9131847 rs10404295 |
235 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748127500 CA9131846 |
237 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146905494 CA9131845 |
237 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275025058 CA403639703 |
239 | P>L | No |
ClinGen TOPMed |
|
|
CA403639693 rs1281093976 |
240 | S>R | No |
ClinGen gnomAD |
|
|
CA9131844 rs772251557 |
241 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436493814 CA403639676 |
243 | G>E | No |
ClinGen gnomAD |
|
|
CA9131841 rs779202274 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403639640 rs779202274 |
246 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236476619 CA403639623 |
247 | S>I | No |
ClinGen Ensembl |
|
|
CA9131839 rs142596297 |
248 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778382505 CA9131838 |
250 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs756657361 CA9131837 |
253 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9131836 rs753302339 |
255 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753302339 CA304791537 |
255 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050537482 CA403639468 |
256 | P>A | No |
ClinGen gnomAD |
|
|
rs1050537482 CA304791520 |
256 | P>S | No |
ClinGen gnomAD |
|
|
CA403639447 rs1448096075 |
257 | W>* | No |
ClinGen TOPMed |
|
|
CA403639456 rs1260427837 |
257 | W>R | No |
ClinGen gnomAD |
|
|
rs1182913649 CA403639411 |
258 | W>* | No |
ClinGen gnomAD |
|
|
rs1243741952 CA403639429 |
258 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1226240576 CA403639375 |
260 | A>D | No |
ClinGen gnomAD |
|
|
CA403639379 rs1285963321 |
260 | A>S | No |
ClinGen gnomAD |
|
|
rs759149797 COSM1397435 CA9131833 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759149797 CA403639367 |
261 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs373167269 CA9131832 |
262 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304791500 rs920379334 |
263 | D>N | No |
ClinGen gnomAD |
|
|
rs920379334 CA403639324 |
263 | D>Y | No |
ClinGen gnomAD |
|
|
CA403639307 rs1431518680 |
264 | E>K | No |
ClinGen gnomAD |
|
|
CA403639294 rs1263609333 |
264 | E>V | No |
ClinGen TOPMed gnomAD |
|
| VAR_035989 | 265 | E>G | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs191413930 CA9131828 |
266 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304791471 rs940866106 |
269 | R>I | No |
ClinGen gnomAD |
|
|
rs1419117332 CA403639183 |
269 | R>S | No |
ClinGen gnomAD |
|
|
rs761726592 CA9131825 |
270 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403639172 rs761726592 |
270 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403639169 rs1183153828 |
270 | C>Y | No |
ClinGen TOPMed |
|
|
CA9131824 rs776617840 |
271 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1568263368 CA403639118 |
273 | R>S | No |
ClinGen Ensembl |
|
|
rs1194994817 CA403639121 |
273 | R>T | No |
ClinGen gnomAD |
|
|
CA403639109 rs1485938181 |
275 | Q>* | No |
ClinGen gnomAD |
|
|
rs967693415 CA304791451 |
275 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371451900 CA304791447 |
278 | I>T | No |
ClinGen ESP gnomAD |
|
|
CA9131821 rs774385767 |
279 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415508503 CA403639061 |
282 | P>S | No |
ClinGen TOPMed |
|
|
CA304791440 rs1023691877 |
283 | H>Q | No |
ClinGen TOPMed |
|
| rs753875111 | 287 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778259814 CA9131817 |
287 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781722943 CA9131814 COSM1720405 |
291 | G>D | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748657750 CA9131815 |
291 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9131810 rs758027632 |
294 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs140434613 CA9131809 COSM3693192 |
295 | R>Q | Variant assessed as Somatic; 4.652e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs896203421 CA304791406 |
295 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs529042100 CA9131808 |
296 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403638818 rs1477502753 |
298 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215141093 CA403638771 |
303 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403638775 rs1253193651 |
303 | H>Y | No |
ClinGen gnomAD |
|
|
CA9131807 rs368693543 |
304 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368693543 CA403638765 |
304 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9131806 rs776375758 |
306 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs764115893 CA9131805 |
306 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759492263 CA9131804 |
307 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9131801 rs749503393 |
316 | S>G | No |
ClinGen ExAC |
|
|
rs151282649 CA9131800 |
316 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444826335 CA403638662 |
316 | S>R | No |
ClinGen gnomAD |
|
|
CA9131799 rs770214003 |
317 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131794 rs755482830 |
318 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs781513427 CA9131797 |
318 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs781513427 CA9131795 |
318 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1357879899 CA403638644 |
319 | L>F | No |
ClinGen gnomAD |
|
|
rs1282636690 CA403638642 |
319 | L>P | No |
ClinGen Ensembl |
|
|
CA403638635 rs1173379499 |
320 | H>Y | No |
ClinGen gnomAD |
|
|
rs1433600646 CA403638625 |
321 | L>Q | No |
ClinGen gnomAD |
|
|
CA403638611 rs779606354 |
323 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs978555621 CA304791346 |
324 | V>I | No |
ClinGen TOPMed |
|
|
rs757970433 CA9131791 |
325 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481594035 CA403638551 |
326 | C>W | No |
ClinGen gnomAD |
|
|
rs1599579483 CA403638542 |
327 | Q>E | No |
ClinGen Ensembl |
|
|
rs767572645 CA403638290 |
333 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs767572645 CA9131762 |
333 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763074945 CA9131761 |
335 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403638214 rs1289145436 |
336 | R>G | No |
ClinGen gnomAD |
|
|
CA403638156 rs762085084 |
337 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131759 rs765459726 |
337 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750501777 CA9131760 |
337 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304791225 rs748258534 |
339 | R>Q | No |
ClinGen TOPMed |
|
|
rs139352371 CA9131757 |
339 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768998387 CA9131756 |
341 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1191382706 CA403638039 |
341 | N>S | No |
ClinGen gnomAD |
|
|
CA9131755 rs760960995 |
344 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201209592 CA403637816 |
349 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201209592 CA9131753 |
349 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9131752 rs746412569 |
353 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131750 COSM569059 rs770484532 |
354 | P>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778370742 CA9131751 |
354 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403637626 rs1325412951 |
355 | H>Q | No |
ClinGen gnomAD |
|
|
CA304791190 rs898916168 |
357 | H>Y | No |
ClinGen TOPMed |
|
|
CA9131749 rs748965176 |
360 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755879134 CA9131747 |
362 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053141074 CA304791070 |
367 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747854212 CA9131728 |
370 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131727 rs754888559 |
371 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403637250 rs1441160917 |
371 | A>S | No |
ClinGen gnomAD |
|
|
CA9131726 rs754888559 |
371 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9131725 rs746877523 |
372 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403637204 rs1187921611 |
374 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780158427 CA9131724 |
374 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174275799 CA403637192 |
375 | A>G | No |
ClinGen gnomAD |
|
|
CA9131723 rs757315200 |
377 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368900527 CA9131722 |
378 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403637153 rs368900527 |
378 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599578435 CA403637163 |
378 | V>M | No |
ClinGen Ensembl |
|
|
rs374798192 CA304791038 |
382 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9131721 rs374798192 |
382 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs960654358 CA304791034 |
383 | G>R | No |
ClinGen TOPMed |
|
|
CA9131717 rs767860753 |
384 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1281756046 CA403637054 |
385 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9131715 rs774782268 |
386 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222255080 CA403636962 |
388 | R>G | No |
ClinGen TOPMed |
|
|
CA403636936 rs1599578276 |
389 | A>T | No |
ClinGen Ensembl |
|
|
CA9131712 rs762483188 |
390 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA403636904 rs762483188 |
390 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329246546 CA403636887 |
390 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769405252 CA9131710 |
391 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769405252 CA403636878 |
391 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403636838 rs1343482930 |
392 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403636830 rs1317977908 |
393 | R>K | No |
ClinGen gnomAD |
|
|
rs768513039 CA9131707 |
396 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs180742911 CA9131708 |
396 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9131706 rs746826598 |
397 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758241069 CA9131704 |
399 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs780005234 CA9131705 |
399 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs568578325 CA9131703 |
401 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9131701 rs777699573 |
403 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1568262209 CA403636626 |
403 | R>W | No |
ClinGen Ensembl |
|
|
rs1333838512 CA403636602 |
404 | P>L | No |
ClinGen gnomAD |
|
|
CA403636610 rs1211543632 |
404 | P>S | No |
ClinGen gnomAD |
|
|
CA403636576 rs1419753604 |
406 | A>S | No |
ClinGen TOPMed |
|
|
rs752846136 CA403636559 |
407 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs752846136 CA9131699 |
407 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403636514 rs1347136993 |
409 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403636531 rs1362326927 |
409 | D>N | No |
ClinGen TOPMed |
|
|
rs995409347 CA304790940 |
410 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403636480 rs1395644956 |
412 | G>R | No |
ClinGen gnomAD |
|
|
CA403636432 rs1185379817 |
416 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9131693 rs554635888 |
416 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403636430 rs1316012391 |
417 | M>L | No |
ClinGen TOPMed |
|
|
rs1599577983 CA403636420 |
418 | G>R | No |
ClinGen Ensembl |
|
|
rs764586182 CA9131691 |
419 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403636414 rs1599577967 |
419 | A>P | No |
ClinGen Ensembl |
|
|
CA403636393 rs1467910414 |
422 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403636386 rs1273579311 |
423 | P>L | No |
ClinGen gnomAD |
|
|
CA304790902 rs934768131 |
423 | P>S | No |
ClinGen TOPMed |
|
|
CA9131690 rs569518808 |
424 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1480994038 CA403636382 |
424 | Q>R | No |
ClinGen TOPMed |
|
|
CA304790815 rs991151639 |
425 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1231185258 CA403636190 |
426 | S>Y | No |
ClinGen TOPMed |
|
|
CA9131672 rs146711285 |
427 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299299113 CA403636187 |
427 | R>Q | No |
ClinGen gnomAD |
|
|
rs146711285 CA9131673 |
427 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403636167 rs1171141029 |
430 | H>Y | No |
ClinGen gnomAD |
|
|
rs760393209 CA403636161 |
431 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304790803 COSM440604 rs757778461 |
431 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9131670 rs760393209 |
431 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403636157 rs1417135363 |
432 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759385447 CA9131667 |
433 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131666 rs774103600 COSM1397434 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs538989393 CA403636138 |
434 | Q>H | No |
ClinGen gnomAD |
|
|
CA403636142 rs1255519607 |
434 | Q>K | No |
ClinGen gnomAD |
|
|
rs1210200880 CA403636141 |
434 | Q>P | No |
ClinGen gnomAD |
|
|
rs377387376 CA9131664 |
435 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403636130 rs1237132950 COSM137153 |
436 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1308066864 CA403636126 |
437 | R>G | No |
ClinGen gnomAD |
|
|
rs1354064970 CA403636067 |
440 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781225583 CA9131662 |
443 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747134741 CA9131660 |
448 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs780337418 CA9131659 |
448 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9131658 rs758641768 |
449 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143503063 CA403635890 |
452 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9131655 rs369666273 |
452 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143503063 CA9131656 |
452 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9131653 rs763689754 |
453 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9131652 rs755651014 |
455 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1203616918 CA403635835 |
455 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403635837 rs1203616918 |
455 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403635824 rs1451497926 |
456 | A>V | No |
ClinGen TOPMed |
|
|
rs373227962 CA403635816 |
457 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373227962 CA9131651 |
457 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232978201 CA403635778 |
460 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1373705620 CA403635746 |
463 | P>L | No |
ClinGen gnomAD |
|
|
CA403635750 rs1461592205 |
463 | P>S | No |
ClinGen gnomAD |
|
|
rs891142092 CA304790205 |
464 | C>R | No |
ClinGen Ensembl |
|
|
CA403635727 rs1194610746 |
466 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1252780028 CA403635728 |
466 | P>S | No |
ClinGen gnomAD |
|
|
rs1252780028 CA403635730 |
466 | P>T | No |
ClinGen gnomAD |
|
|
CA403635700 rs1441362366 |
470 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752279390 CA9131633 |
474 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9131630 rs754635882 |
475 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304790106 rs767458157 |
478 | V>A | No |
ClinGen Ensembl |
|
|
CA9131629 rs201959880 |
478 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345229914 CA403635600 |
479 | R>C | No |
ClinGen gnomAD |
|
|
CA403634452 rs766156638 |
482 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766156638 CA9131628 |
482 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762752411 CA9131627 |
482 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9131626 rs373836898 |
483 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988082584 CA304790098 |
483 | G>S | No |
ClinGen TOPMed |
|
|
rs765190974 CA9131625 |
484 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1304348677 CA403634415 |
485 | E>K | No |
ClinGen TOPMed |
|
|
CA9131622 rs148683690 |
488 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403634354 rs1394747769 |
489 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403634344 rs746102756 |
491 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9131621 rs746102756 |
491 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9131620 rs774716402 |
492 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403634305 rs570757869 |
496 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570757869 CA9131618 |
496 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9131619 rs771362495 |
496 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs924748552 CA304790068 |
497 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs778380522 CA9131617 |
498 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9131616 rs756612734 |
499 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403634290 rs756612734 |
499 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304790034 rs184596900 |
502 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA9131612 rs751156704 |
506 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs375639151 CA9131613 |
506 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs983799550 CA304790001 |
507 | M>I | No |
ClinGen Ensembl |
|
|
CA9131611 rs779705713 |
507 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1374911420 CA403634239 |
508 | V>I | No |
ClinGen gnomAD |
|
|
rs751325311 CA304789995 |
509 | R>P | No |
ClinGen gnomAD |
|
|
rs751325311 CA403634231 |
509 | R>Q | No |
ClinGen gnomAD |
|
|
rs765989877 CA304789994 |
510 | D>Y | No |
ClinGen Ensembl |
|
|
CA304789989 rs1022074539 |
512 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1158301205 CA403634205 |
512 | P>S | No |
ClinGen gnomAD |
|
|
CA9131608 rs373443344 |
514 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304789975 rs568064266 |
515 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA304789976 rs568064266 |
515 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs772727234 CA304789959 |
517 | V>L | No |
ClinGen Ensembl |
|
|
CA403634100 rs1473974765 |
518 | A>V | No |
ClinGen gnomAD |
|
|
CA304789951 rs373393251 |
519 | A>G | No |
ClinGen gnomAD |
|
|
CA403634086 rs373393251 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs1568260899 CA403634074 |
520 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 521 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9131607 rs761800891 |
521 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9131606 rs369971495 |
521 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 521 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761800891 CA403634064 |
521 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290714291 CA403633918 |
525 | F>L | No |
ClinGen gnomAD |
|
|
CA403633909 rs746553675 |
526 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9131595 rs746553675 |
526 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1230138096 CA403633913 |
526 | R>W | No |
ClinGen gnomAD |
|
|
CA403633901 rs1476914409 |
527 | P>S | No |
ClinGen TOPMed |
|
|
rs779580562 CA9131594 |
528 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA403633871 rs1436088790 |
529 | P>S | No |
ClinGen gnomAD |
|
|
rs1430292487 CA403633832 |
530 | E>D | No |
ClinGen TOPMed |
|
|
CA403633855 rs1324235112 |
530 | E>K | No |
ClinGen gnomAD |
|
|
rs986355757 CA304789321 |
531 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1467801747 CA403633818 |
531 | L>V | No |
ClinGen TOPMed |
|
|
CA403633791 rs946440996 |
532 | R>K | No |
ClinGen gnomAD |
|
|
rs946440996 CA304789314 |
532 | R>T | No |
ClinGen gnomAD |
|
|
CA9131592 rs750137504 |
533 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs953361719 CA403633737 |
534 | A>G | No |
ClinGen TOPMed |
|
|
rs1166967286 CA403633747 |
534 | A>T | No |
ClinGen gnomAD |
|
|
CA304789303 rs953361719 |
534 | A>V | No |
ClinGen TOPMed |
|
|
rs1249682979 CA403633674 |
537 | T>I | No |
ClinGen gnomAD |
|
|
CA403633668 rs753748884 |
538 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131589 rs753748884 |
538 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403633625 rs997355812 |
540 | V>A | No |
ClinGen TOPMed |
|
|
CA304789268 rs997355812 |
540 | V>E | No |
ClinGen TOPMed |
|
|
CA403633640 rs1223659694 CA403633642 |
540 | V>L | No |
ClinGen gnomAD |
|
|
rs763958239 CA403633579 |
544 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763958239 CA9131588 |
544 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229429570 CA403633554 |
545 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1280280447 CA403633519 |
546 | G>D | No |
ClinGen Ensembl |
|
|
CA304789209 rs575224861 |
546 | G>S | No |
ClinGen 1000Genomes |
|
|
CA9131587 rs759644505 |
547 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304789206 rs527624678 |
547 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 548 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751655346 CA9131586 |
548 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304789186 rs1011351874 |
550 | A>E | No |
ClinGen TOPMed |
|
|
rs1440561489 CA403633419 |
550 | A>P | No |
ClinGen gnomAD |
|
|
rs922745885 CA304789176 |
552 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs922745885 CA403633370 |
552 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403633361 rs1599574623 |
553 | P>L | No |
ClinGen Ensembl |
|
|
rs1420756723 CA403633346 |
554 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs975562670 CA304789175 |
554 | R>L | No |
ClinGen Ensembl |
|
|
CA9131584 rs61729851 |
555 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304789170 rs910175229 |
557 | R>C | No |
ClinGen Ensembl |
|
|
rs372319033 CA9131583 |
557 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 559 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403633239 rs1417247445 |
560 | K>* | No |
ClinGen gnomAD |
|
|
rs770127757 CA9131582 |
562 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA304789155 rs777157553 |
564 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403633160 rs777157553 |
564 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9131580 rs777157553 |
564 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403633135 rs1479587297 |
565 | L>F | No |
ClinGen gnomAD |
|
|
CA403633113 rs1205911033 |
566 | G>R | No |
ClinGen gnomAD |
|
|
rs1412045859 CA403633087 |
567 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403633095 rs1336104364 |
567 | V>F | No |
ClinGen TOPMed |
|
|
CA403633079 rs1484060371 |
568 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1278527570 CA403633047 |
569 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9131576 rs771641226 |
571 | R>C | Variant assessed as Somatic; 7.004e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866653960 CA403633010 |
571 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304789140 rs866653960 |
571 | R>L | No |
ClinGen gnomAD |
|
|
CA304789146 rs771641226 |
571 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403632998 rs1266041765 |
572 | L>P | No |
ClinGen TOPMed |
|
|
CA304789137 rs866252732 |
575 | D>E | No |
ClinGen Ensembl |
|
|
CA403632951 rs1222581053 |
576 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA304789129 rs868594500 |
576 | R>L | No |
ClinGen gnomAD |
|
| rs866866534 | 577 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866866534 CA304789112 |
577 | R>L | No |
ClinGen gnomAD |
|
|
rs1046020720 CA304789127 |
577 | R>R | No |
ClinGen TOPMed |
|
|
rs1289486772 CA403632930 |
577 | R>W | No |
ClinGen gnomAD |
No associated diseases with Q9BRG2
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8N5H7 | SH2D3C | SH2 domain-containing protein 3C | Homo sapiens (Human) | PR |
| O75815 | BCAR3 | Breast cancer anti-estrogen resistance protein 3 | Homo sapiens (Human) | PR |
| Q9QZK2 | Bcar3 | Breast cancer anti-estrogen resistance protein 3 homolog | Mus musculus (Mouse) | PR |
| Q9QZS8 | Sh2d3c | SH2 domain-containing protein 3C | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQVPQDGEDL | AGQPWYHGLL | SRQKAEALLQ | QNGDFLVRAS | GSRGGNPVIS | CRWRGSALHF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EVFRVALRPR | PGRPTALFQL | EDEQFPSIPA | LVHSYMTGRR | PLSQATGAVV | SRPVTWQGPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRSFSEDTLM | DGPARIEPLR | ARKWSNSQPA | DLAHMGRSRE | DPAGMEASTM | PISALPRTSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPVLLKAPAP | LGTVADSLRA | SDGQLQAKAP | TKPPRTPSFE | LPDASERPPT | YCELVPRVPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VQGTSPSQSC | PEPEAPWWEA | EEDEEEENRC | FTRPQAEISF | CPHDAPSCLL | GPQNRPLEPQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLHTLRGLFL | EHHPGSTALH | LLLVDCQATG | LLGVTRDQRG | NMGVSSGLEL | LTLPHGHHLR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LELLERHQTL | ALAGALAVLG | CSGPLEERAA | ALRGLVELAL | ALRPGAAGDL | PGLAAVMGAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LMPQVSRLEH | TWRQLRRSHT | EAALAFEQEL | KPLMRALDEG | AGPCDPGEVA | LPHVAPMVRL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LEGEEVAGPL | DESCERLLRT | LHGARHMVRD | APKFRKVAAQ | RLRGFRPNPE | LREALTTGFV |
| 550 | 560 | 570 | |||
| RRLLWGSRGA | GAPRAERFEK | FQRVLGVLSQ | RLEPDR |