Q8TE77
PR
Gene name |
SSH3 (SSH3L) |
Protein name |
Protein phosphatase Slingshot homolog 3 |
Names |
SSH-like protein 3, SSH-3L, hSSH-3L |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54961 |
EC number |
3.1.3.16: Phosphoric monoester hydrolases |
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 Q8TE77
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TE77-F1 | Predicted | AlphaFoldDB |
616 variants for Q8TE77
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA381552633 rs1234741384 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA381552649 rs1469026093 |
4 | V>I | No |
ClinGen gnomAD |
|
|
CA381552651 rs1469026093 |
4 | V>L | No |
ClinGen gnomAD |
|
|
rs1426251153 CA381552665 |
5 | T>I | No |
ClinGen gnomAD |
|
|
CA381552684 rs1590880465 |
7 | S>N | No |
ClinGen Ensembl |
|
|
rs773230060 CA6135226 |
7 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1173733184 CA381552696 |
8 | R>P | No |
ClinGen gnomAD |
|
|
CA381552704 rs1554972135 |
9 | S>* | No |
ClinGen Ensembl |
|
|
rs1057165661 CA224161228 |
10 | P>L | No |
ClinGen TOPMed |
|
|
rs1272327540 CA381552713 |
10 | P>S | No |
ClinGen TOPMed |
|
|
CA224161237 rs894477150 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766051446 CA6135228 |
11 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1294069662 CA381552769 |
16 | S>T | No |
ClinGen gnomAD |
|
|
rs1022189462 CA224161251 |
17 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1590880525 CA381552806 |
19 | V>G | No |
ClinGen Ensembl |
|
|
CA224161259 rs1016476013 |
20 | G>A | No |
ClinGen Ensembl |
|
|
rs201338624 CA6135229 |
20 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759090980 CA6135230 |
21 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6135255 rs767988745 |
23 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA381552896 rs1282673765 |
23 | D>N | No |
ClinGen gnomAD |
|
|
CA381552935 rs1187875819 |
24 | Q>H | No |
ClinGen gnomAD |
|
|
rs750754576 CA6135256 |
25 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1048451515 CA224161769 |
28 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381552997 rs1442272420 |
28 | R>L | No |
ClinGen gnomAD |
|
|
CA6135257 rs756439026 |
29 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA381553028 rs1455337002 |
30 | S>I | No |
ClinGen gnomAD |
|
|
CA6135259 rs374323005 |
31 | R>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6135260 rs138958962 |
31 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770771018 CA6135263 |
33 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1450553056 CA381553067 |
33 | Q>H | No |
ClinGen gnomAD |
|
|
CA6135264 rs781118319 |
34 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381553708 rs1481343538 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs1193968308 CA381553713 |
36 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1249743373 CA381553720 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
CA224164244 rs762303707 |
38 | F>L | No |
ClinGen Ensembl |
|
|
rs1201308973 CA381553767 |
38 | F>S | No |
ClinGen gnomAD |
|
|
CA6135284 rs769624282 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6135285 rs368580290 |
40 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6135286 rs368580290 |
40 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768300121 CA6135287 |
41 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6135288 rs773991846 |
42 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6135290 rs761247607 |
42 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761247607 CA6135289 |
42 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381553819 rs761247607 |
42 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773635819 CA6135291 |
43 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6135292 rs761243913 |
46 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1344077273 CA381553911 |
47 | G>V | No |
ClinGen gnomAD |
|
|
rs1393413196 CA381553931 |
49 | Q>* | No |
ClinGen gnomAD |
|
|
rs898391283 CA224164275 |
50 | D>N | No |
ClinGen TOPMed |
|
|
CA6135294 rs754252660 |
51 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766910579 CA6135293 |
51 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759914862 CA6135295 |
52 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6135296 rs765391716 |
53 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266442968 CA381554010 |
54 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1490133685 CA381554026 |
54 | N>S | No |
ClinGen gnomAD |
|
|
rs1248027269 CA381554046 |
55 | D>H | No |
ClinGen TOPMed |
|
|
CA6135298 rs767946607 |
57 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777886337 CA6135301 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381554167 rs1238160381 |
62 | S>P | No |
ClinGen gnomAD |
|
|
CA381554214 rs1166044392 |
64 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM931039 CA6135302 rs139469296 |
65 | T>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA381554235 rs1295691837 |
66 | E>K | No |
ClinGen TOPMed |
|
|
rs1424430618 CA381554265 |
68 | A>S | No |
ClinGen gnomAD |
|
|
rs756039476 CA6135303 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1363625313 CA381554287 |
69 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381554298 rs1294202547 |
70 | S>C | No |
ClinGen gnomAD |
|
|
CA6135305 rs749093128 |
70 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381554322 rs1248025242 |
71 | E>A | No |
ClinGen gnomAD |
|
|
rs1289507516 CA381554342 |
72 | E>K | No |
ClinGen gnomAD |
|
|
rs1396449749 CA381554413 |
74 | L>F | No |
ClinGen TOPMed |
|
|
rs1216221547 CA381554466 |
76 | G>A | No |
ClinGen gnomAD |
|
|
rs1216221547 CA381554462 |
76 | G>E | No |
ClinGen gnomAD |
|
|
rs754715773 CA6135306 CA381554449 |
76 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486954693 CA381554493 |
77 | D>N | No |
ClinGen gnomAD |
|
|
rs142486546 CA6135308 |
79 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61731786 CA6135310 |
81 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747587103 CA6135312 COSM467302 CA6135311 |
82 | G>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA |
|
CA6135313 rs139505782 |
83 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381554629 rs139505782 |
83 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381554637 rs1160245597 |
83 | Q>R | No |
ClinGen gnomAD |
|
|
CA224164373 rs922194628 |
87 | S>G | No |
ClinGen gnomAD |
|
|
CA224164377 rs941903504 |
91 | Q>E | No |
ClinGen TOPMed |
|
|
CA381554800 rs1251529984 |
92 | E>G | No |
ClinGen TOPMed |
|
|
rs146605334 CA6135316 |
93 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454129390 CA381554824 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs141467579 CA6135318 |
94 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1251598231 CA381554859 |
94 | Q>R | No |
ClinGen TOPMed |
|
|
CA6135319 rs182079619 |
95 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381554926 rs1339476901 |
97 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135320 rs377583512 |
98 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766322478 CA6135322 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1461782401 CA381554973 |
100 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6135324 rs754773644 |
101 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1056219076 CA224164418 |
103 | Q>* | No |
ClinGen TOPMed |
|
|
CA224164422 rs896207008 |
103 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 105 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135326 rs373641394 |
106 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758068169 CA6135327 |
107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746534042 CA6135329 |
110 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143908566 CA6135330 |
112 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135332 rs530739672 |
112 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381555209 rs530739672 |
112 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143908566 CA6135331 |
112 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381555225 rs1442773653 |
113 | L>P | No |
ClinGen gnomAD |
|
|
CA381555822 rs1422525685 |
114 | A>T | No |
ClinGen gnomAD |
|
|
CA381555844 rs1302372843 |
116 | Q>* | No |
ClinGen gnomAD |
|
|
rs751313615 CA6135367 |
118 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381555880 rs1431800080 |
119 | A>V | No |
ClinGen gnomAD |
|
|
rs780925013 CA6135369 |
120 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6135368 rs756963732 |
120 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs202137284 CA381555890 |
121 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381555888 rs202137284 |
121 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202137284 CA6135371 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6135370 rs765145159 |
121 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135372 rs752356118 |
122 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749725324 CA6135373 |
123 | P>T | No |
ClinGen ExAC |
|
|
rs769054897 CA6135374 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999832489 CA224165835 |
124 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs779237985 CA6135375 |
125 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135376 rs201172638 |
126 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772289357 CA6135377 |
126 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381555951 rs1442776850 |
129 | L>M | No |
ClinGen gnomAD |
|
|
rs760831193 CA6135380 |
132 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135382 rs200495091 |
133 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6135381 rs200495091 |
133 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549723723 CA6135384 |
134 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs549723723 CA6135383 |
134 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135385 rs146864089 |
134 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769558402 CA6135386 |
135 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224165947 rs938022105 |
136 | G>E | No |
ClinGen Ensembl |
|
|
CA6135389 rs750000197 |
140 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381556109 rs1225041138 |
142 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6135391 rs61731165 |
142 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6135393 rs754429768 |
143 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6135395 rs779329717 |
143 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135392 rs754429768 |
143 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6135394 rs779329717 |
143 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778087544 CA381556129 |
144 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6135397 rs778087544 |
144 | T>M | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1330149601 CA679461293 |
146 | L>* | No |
ClinGen TOPMed |
|
|
rs1364120026 CA381556161 |
147 | L>M | No |
ClinGen gnomAD |
|
|
CA6135399 rs771092543 |
148 | G>D | No |
ClinGen ExAC |
|
|
rs540037289 CA6135401 |
149 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768727587 CA381556222 |
151 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6135402 rs768727587 |
151 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA224166001 rs547088389 |
152 | P>S | No |
ClinGen 1000Genomes |
|
|
CA381556274 rs1337438521 |
154 | S>G | No |
ClinGen gnomAD |
|
|
CA6135403 rs774381187 |
154 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247064190 CA381556433 |
156 | S>Y | No |
ClinGen TOPMed |
|
|
CA6135420 rs745967318 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6135419 rs551151823 |
157 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405135745 CA381556495 |
160 | T>S | No |
ClinGen gnomAD |
|
|
CA6135421 rs185919007 |
162 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135423 rs748073470 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194058117 CA381556602 |
169 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA224166165 rs1010150174 |
171 | T>I | No |
ClinGen TOPMed |
|
|
rs1010150174 CA224166150 |
171 | T>N | No |
ClinGen TOPMed |
|
|
CA381556660 rs771956959 |
172 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6135425 rs772881395 |
173 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA224166203 rs971210387 |
174 | Y>C | No |
ClinGen Ensembl |
|
|
CA6135427 rs770507422 |
177 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776220852 CA381556727 |
178 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431725015 CA381556717 |
178 | D>N | No |
ClinGen gnomAD |
|
|
CA6135447 rs759167879 |
180 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6135446 rs754367835 |
180 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565088840 CA381556822 |
182 | S>I | No |
ClinGen Ensembl |
|
|
rs762464804 CA6135450 |
183 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376309375 CA381556841 |
184 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376309375 CA6135451 |
184 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376309375 CA381556842 |
184 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321049024 CA381556869 |
187 | G>E | No |
ClinGen TOPMed |
|
|
CA381556907 rs1175552945 |
189 | S>G | No |
ClinGen gnomAD |
|
|
CA381556920 rs1034174005 |
189 | S>I | No |
ClinGen gnomAD |
|
|
CA224166485 rs1034174005 |
189 | S>N | No |
ClinGen gnomAD |
|
|
rs750730347 CA6135455 |
190 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6135454 rs201158603 |
190 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135456 rs756397595 |
192 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432851623 CA381557022 |
195 | I>V | No |
ClinGen gnomAD |
|
|
rs1565088879 CA381557048 |
197 | I>F | No |
ClinGen Ensembl |
|
|
CA6135458 rs753982628 |
197 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224166530 rs959755044 |
200 | M>T | No |
ClinGen TOPMed |
|
|
CA6135459 rs374004637 |
200 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381557138 rs1483234211 |
201 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs11604985 CA224166661 |
203 | T>A | No |
ClinGen Ensembl |
|
|
CA381557165 rs1253181375 |
203 | T>I | No |
ClinGen gnomAD |
|
|
rs1181016520 CA381557202 |
205 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201853900 CA6135475 |
208 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6135474 rs766733492 |
208 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA6135476 rs755052851 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6135477 rs765338960 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224166683 rs907047678 |
211 | C>G | No |
ClinGen TOPMed |
|
|
CA381557276 rs907047678 |
211 | C>R | No |
ClinGen TOPMed |
|
|
CA381557278 rs1299654896 |
211 | C>Y | No |
ClinGen gnomAD |
|
|
CA6135478 rs751511323 |
212 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1356378 CA381557382 rs1276678678 |
218 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6135482 rs748315681 |
218 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055504128 CA381557390 |
219 | L>F | No |
ClinGen TOPMed |
|
|
CA224166733 rs1055504128 |
219 | L>V | No |
ClinGen TOPMed |
|
|
CA381557418 rs1205852933 |
221 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1312112934 CA381557413 |
221 | P>S | No |
ClinGen gnomAD |
|
|
CA381557442 rs1220110774 |
223 | G>D | No |
ClinGen TOPMed |
|
|
CA381557435 rs1482297447 |
223 | G>S | No |
ClinGen gnomAD |
|
|
rs61736988 CA224166761 |
224 | S>N | No |
ClinGen gnomAD |
|
|
CA6135485 rs768105606 |
226 | L>P | No |
ClinGen ExAC |
|
|
rs142784479 CA6135488 |
227 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6135486 rs1554972659 |
227 | T>P | No |
ClinGen Ensembl |
|
|
rs1295960164 CA381557519 |
228 | W>* | No |
ClinGen TOPMed |
|
|
rs200515260 CA224166775 |
228 | W>G | No |
ClinGen gnomAD |
|
|
CA6135489 rs747543342 |
228 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs199920598 CA6135490 |
229 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA381557549 rs1216097100 |
230 | S>N | No |
ClinGen TOPMed |
|
|
rs773809112 CA6135491 |
232 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368425062 CA381557621 |
234 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs936127278 CA224166791 |
234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1303584310 CA381557634 |
235 | R>S | No |
ClinGen gnomAD |
|
|
rs766824408 CA6135493 |
235 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs759791635 CA6135495 |
238 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752829057 CA224166826 |
239 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135497 rs752829057 |
239 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224166840 VAR_057132 rs7114712 |
239 | E>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs376692542 CA6135498 |
242 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767472087 CA6135499 |
243 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1340727017 CA381557730 |
244 | N>S | No |
ClinGen gnomAD |
|
|
CA381557756 rs1371698874 |
245 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 245 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135502 rs779880796 |
246 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6135503 rs748956056 |
247 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6135504 rs148268386 |
247 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747717938 CA6135506 |
249 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381557844 rs1590885881 |
251 | D>A | No |
ClinGen Ensembl |
|
|
CA6135509 rs771914107 |
251 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771481302 CA6135510 |
253 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135511 rs777051119 |
254 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6135512 rs548768309 |
255 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6135514 rs775533885 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149465975 CA6135513 |
256 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs997669346 CA224166915 |
257 | P>H | No |
ClinGen TOPMed |
|
|
CA224166930 rs373944304 |
259 | S>G | No |
ClinGen ESP gnomAD |
|
|
CA381557945 rs367831438 |
259 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381557932 rs373944304 |
259 | S>R | No |
ClinGen ESP gnomAD |
|
|
CA381557971 rs1358911436 |
261 | E>D | No |
ClinGen gnomAD |
|
|
CA224166939 rs887621192 |
261 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs750413460 CA224166942 |
262 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750413460 CA6135517 |
262 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148649808 CA6135518 |
263 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135519 rs148649808 |
263 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565089199 CA475390324 |
264 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6135521 rs61731782 |
264 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184616758 CA381558101 |
265 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1456795828 CA381558135 |
268 | Q>* | No |
ClinGen gnomAD |
|
|
rs1363798310 CA381558138 |
268 | Q>R | No |
ClinGen TOPMed |
|
|
rs751129687 CA6135543 |
271 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs745830198 CA6135542 |
271 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413328763 CA381558246 |
274 | A>T | No |
ClinGen gnomAD |
|
|
rs756680076 CA6135544 |
274 | A>V | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6135546 rs746337610 |
275 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs370832879 CA6135547 |
276 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780388866 CA6135548 |
276 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61737055 CA6135549 |
277 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590886128 CA381558289 |
277 | A>V | No |
ClinGen Ensembl |
|
|
rs1257315484 CA381558311 |
280 | W>* | No |
ClinGen gnomAD |
|
|
rs1437794499 CA381558324 |
281 | K>Q | No |
ClinGen gnomAD |
|
|
rs768877012 CA6135550 |
282 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs774504539 CA6135552 |
283 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1164914421 CA381558361 |
283 | L>S | No |
ClinGen gnomAD |
|
|
CA6135553 rs772017686 |
285 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1207498398 CA381558409 |
286 | S>N | No |
ClinGen gnomAD |
|
|
CA6135555 rs759379539 |
292 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs765150955 CA6135556 |
293 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6135558 rs762782325 |
295 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6135557 rs775434170 |
295 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs775434170 CA381558526 |
295 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1389964098 CA381558606 |
296 | I>S | No |
ClinGen gnomAD |
|
|
rs371330009 CA6135576 |
297 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224167320 rs897275516 |
297 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA224167326 rs200593286 |
299 | A>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs775522239 CA6135578 |
299 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1029177100 CA224167333 |
301 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1432879191 CA381558695 |
301 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6135580 COSM1227641 rs143770446 |
303 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773671546 CA224167334 |
303 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381558754 rs1267437121 |
305 | G>R | No |
ClinGen gnomAD |
|
|
rs1354562682 CA381558806 |
308 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201982384 CA6135582 |
310 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381558882 rs1248789617 |
311 | Y>S | No |
ClinGen gnomAD |
|
|
rs767131435 CA6135584 |
312 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6135585 rs200430843 |
312 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381558959 rs1366315868 |
315 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754314670 CA6135588 |
316 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755387165 CA6135589 |
317 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA224167386 rs368957949 |
318 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs1432763722 CA381559023 |
319 | M>L | No |
ClinGen gnomAD |
|
|
rs1319838437 CA381559063 |
321 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6135590 rs763871224 |
324 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310398501 CA381559110 |
325 | Q>* | No |
ClinGen gnomAD |
|
|
CA6135592 rs758558472 |
326 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6135591 rs146883105 |
326 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777997579 CA6135593 |
328 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381560131 rs372414797 |
328 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135594 rs372414797 |
328 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135595 rs370015186 |
331 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1356379 rs780187148 CA6135597 |
331 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6135596 rs780187148 |
331 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381560166 rs780187148 |
331 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224167396 rs959967558 |
332 | I>V | No |
ClinGen TOPMed |
|
|
rs1343610101 CA381560217 |
334 | P>L | No |
ClinGen TOPMed |
|
|
rs761610806 CA6135600 |
335 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA381560221 rs540604321 |
335 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135599 rs540604321 |
335 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135601 rs771643940 |
337 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135620 rs760308325 |
339 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6135621 rs770496360 |
340 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA381560370 rs1263367656 |
342 | W>* | No |
ClinGen TOPMed |
|
|
rs149991072 CA6135623 CA381560394 |
343 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381560400 rs1297621026 |
344 | A>E | No |
ClinGen gnomAD |
|
|
CA6135624 rs200078645 |
344 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1368400269 CA381560413 |
345 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381560449 rs1221395697 |
347 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381560545 rs763269176 CA381560546 |
352 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA381560565 CA224167496 rs939724808 |
353 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381560748 rs1363710716 |
355 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1430618671 CA381560759 |
356 | T>A | No |
ClinGen TOPMed |
|
|
rs1026244172 CA224168054 |
357 | H>P | No |
ClinGen Ensembl |
|
|
CA381560819 rs1201600008 |
358 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135646 rs371608162 |
361 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135645 rs764437356 |
361 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA381560883 rs1565090087 |
362 | A>V | No |
ClinGen Ensembl |
|
|
rs200425789 CA6135648 |
363 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135647 rs74859815 |
363 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135649 rs201014608 |
364 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756194421 CA6135650 |
365 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6135652 rs536722692 |
367 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536722692 CA6135651 |
367 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6135654 rs777515460 |
369 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1590887527 CA381561002 |
369 | Y>S | No |
ClinGen Ensembl |
|
|
rs964803902 CA224168129 |
370 | P>S | No |
ClinGen Ensembl |
|
|
CA6135656 rs368677697 |
372 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224168140 rs780865372 |
374 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381561103 rs1322693479 |
374 | T>I | No |
ClinGen TOPMed |
|
|
rs780865372 CA6135657 |
374 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934851612 CA224168146 |
377 | N>S | No |
ClinGen TOPMed |
|
|
CA6135660 rs201529209 |
379 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135661 rs748684124 |
379 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769225107 CA6135662 |
381 | W>* | No |
ClinGen ExAC gnomAD |
|
|
COSM429697 CA381561237 rs774957773 |
382 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774957773 CA6135663 |
382 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767969696 CA6135665 |
385 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135664 rs762308694 |
385 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA381561373 rs1590887578 |
388 | L>R | No |
ClinGen Ensembl |
|
|
CA6135667 rs145193470 |
390 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381561536 rs1590887602 |
395 | T>A | No |
ClinGen Ensembl |
|
|
rs888479896 CA224168194 |
395 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764052992 CA381561549 |
396 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA6135671 rs764052992 |
396 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751471581 CA6135672 |
397 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135673 rs757095531 |
397 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381561623 rs1173702668 |
399 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6135675 rs780955187 |
399 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA381561624 rs1173702668 |
399 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6135676 rs766959116 |
400 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224168223 rs766959116 |
400 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201638626 CA381561671 |
401 | A>V | No |
ClinGen TOPMed |
|
|
CA381561761 rs1339023203 |
405 | Q>* | No |
ClinGen gnomAD |
|
|
rs754591969 CA6135698 |
405 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381561813 rs1590887924 |
407 | T>P | No |
ClinGen Ensembl |
|
|
CA6135699 rs149176266 |
408 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135700 rs146571978 |
408 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198716483 CA381561834 |
408 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs989605407 CA224168435 |
409 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1339165094 CA381561879 |
410 | L>P | No |
ClinGen TOPMed |
|
|
CA6135702 rs778376161 |
411 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA381561919 rs1590887952 |
412 | H>P | No |
ClinGen Ensembl |
|
|
CA381561957 rs1164426339 |
414 | K>R | No |
ClinGen gnomAD |
|
|
rs1391653387 CA381561970 |
415 | M>T | No |
ClinGen gnomAD |
|
|
rs1192421697 CA381562019 |
417 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs776965301 CA6135705 |
417 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380279635 CA381562038 |
418 | S>T | No |
ClinGen gnomAD |
|
|
rs924813982 CA224168467 |
419 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381562059 rs1326018366 |
419 | R>H | No |
ClinGen gnomAD |
|
|
rs924813982 CA381562051 |
419 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs139095852 CA381562095 |
421 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139095852 CA6135706 |
421 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775557604 CA6135708 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762969475 CA6135709 |
424 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1421395543 CA381562163 |
426 | A>P | No |
ClinGen TOPMed |
|
|
CA381562219 rs1466693713 |
428 | A>T | No |
ClinGen gnomAD |
|
|
rs1203743503 CA381562229 |
428 | A>V | No |
ClinGen gnomAD |
|
|
rs767469985 CA6135710 |
429 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA381562307 rs1590888005 |
431 | Q>K | No |
ClinGen Ensembl |
|
|
CA381562362 rs561698271 CA381562361 |
432 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772991245 CA6135711 |
432 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6135713 rs574866080 |
433 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159308737 CA381562374 |
434 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1194434 rs1390738070 CA381562390 |
435 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1419193432 CA381562411 |
435 | S>T | No |
ClinGen gnomAD |
|
|
rs754684066 CA6135715 |
438 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381562469 rs1402684900 |
439 | A>V | No |
ClinGen gnomAD |
|
|
rs1396775397 CA381562481 |
440 | L>P | No |
ClinGen gnomAD |
|
|
CA6135716 rs764926762 |
441 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381562487 rs1554972941 |
441 | R>H | No |
ClinGen Ensembl |
|
|
rs141358249 CA381562504 |
442 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752983869 CA381562511 |
443 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752983869 CA6135719 |
443 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565090406 CA381562526 |
444 | Q>* | No |
ClinGen Ensembl |
|
|
rs1237526102 CA381562540 |
445 | E>K | No |
ClinGen gnomAD |
|
|
CA6135722 rs781408984 |
447 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135721 rs542623492 |
447 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381562655 rs770023721 |
449 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146978903 CA6135723 |
449 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758743323 CA6135725 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135727 rs768699463 |
451 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135728 rs192669750 |
451 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192669750 CA224168627 |
451 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760524211 CA6135729 |
452 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760524211 CA6135730 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381562751 rs1590888130 |
453 | N>T | No |
ClinGen Ensembl |
|
|
rs1373857596 CA381562786 |
454 | P>L | No |
ClinGen gnomAD |
|
|
CA381562792 rs1427174089 |
455 | G>R | No |
ClinGen TOPMed |
|
|
CA6135731 rs776305127 |
456 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs765014323 CA6135733 |
458 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752368206 CA6135734 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752368206 CA6135735 |
458 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765014323 CA224168664 |
458 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381562882 rs1353754269 |
460 | L>V | No |
ClinGen gnomAD |
|
|
rs752179128 CA6135738 |
461 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs773711729 RCV000845100 |
462 | I>missing | No |
ClinVar dbSNP |
|
|
rs1590888156 CA381562920 |
462 | I>N | No |
ClinGen Ensembl |
|
|
CA381562949 rs1346621448 |
464 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757712102 CA6135739 |
464 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210908663 CA381562994 |
466 | I>V | No |
ClinGen TOPMed |
|
|
CA6135740 rs781687217 |
467 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6135741 rs144805023 |
468 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 470 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 470 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368584264 CA6135765 |
471 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381563135 rs1359361334 |
471 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381563140 rs1359361334 |
471 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748207909 CA6135766 |
473 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs916169694 CA224168952 |
475 | V>A | No |
ClinGen Ensembl |
|
|
TCGA novel CA381563225 rs1590888393 |
476 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA6135767 rs772161671 |
476 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949027751 CA224168973 |
481 | G>D | No |
ClinGen Ensembl |
|
|
CA224168977 rs527555463 |
482 | G>E | No |
ClinGen Ensembl |
|
|
rs1465342183 CA381563378 |
483 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1465342183 CA381563380 |
483 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6135769 rs141784426 |
483 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562795122 CA6135770 |
485 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6135771 rs775434265 |
486 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381563481 rs1474510766 |
488 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1474510766 CA381563478 |
488 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381563488 rs929357970 |
488 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1474510766 CA381563480 |
488 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 489 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135772 rs762754947 |
489 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 492 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135774 rs150098133 |
493 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768220266 CA6135773 |
493 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768220266 CA381563573 |
493 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135776 rs767037627 |
495 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1320619402 CA381563613 |
496 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6135777 rs750994111 |
497 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429529716 CA381563636 |
498 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1357012864 CA381563663 |
499 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1303040902 CA381563656 |
499 | P>S | No |
ClinGen gnomAD |
|
|
rs1389689500 CA381563669 |
500 | L>F | No |
ClinGen gnomAD |
|
|
CA6135778 rs370197853 |
501 | P>L | Variant assessed as Somatic; 9.251e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755329741 CA6135781 |
506 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135782 rs779045710 |
508 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752943647 CA6135783 |
510 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224169096 rs752943647 |
510 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139161442 CA6135784 |
512 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777998969 CA6135785 |
513 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375537802 CA6135786 |
514 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1417258666 CA381563907 |
515 | M>I | No |
ClinGen gnomAD |
|
|
CA381563902 rs1265956320 |
515 | M>V | No |
ClinGen TOPMed |
|
|
CA224169117 rs1043358584 |
517 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381563962 rs1488129614 |
518 | S>N | No |
ClinGen TOPMed |
|
|
CA381563966 CA381563967 rs1406484232 |
518 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6135788 rs756137949 |
519 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381563997 rs1244999184 |
520 | A>E | No |
ClinGen TOPMed |
|
|
rs780096991 CA6135789 |
520 | A>T | No |
ClinGen ExAC |
|
|
rs376873839 CA6135791 |
522 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135793 rs747831991 |
523 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6135794 rs142181326 |
523 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750166856 CA6135796 |
524 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381564075 rs766903816 |
526 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs766903816 CA6135797 |
526 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs896197047 CA224169176 |
528 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1014423729 CA224169187 |
529 | R>P | No |
ClinGen Ensembl |
|
|
rs1014423729 CA224169184 |
529 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs144774998 CA6135798 |
529 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381564106 rs1438441416 |
530 | P>A | No |
ClinGen gnomAD |
|
|
rs1590888588 CA381564115 |
531 | R>C | No |
ClinGen Ensembl |
|
|
rs765623534 CA224169192 |
531 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765623534 CA6135800 |
531 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6135802 rs758653717 |
532 | I>M | No |
ClinGen ExAC |
|
|
CA6135801 rs752932854 |
532 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970349556 CA224169233 |
534 | L>F | No |
ClinGen TOPMed |
|
|
CA6135804 rs202115905 |
535 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381564155 rs1164299707 |
535 | R>Q | No |
ClinGen gnomAD |
|
|
CA381564170 rs1397277925 |
537 | V>F | No |
ClinGen gnomAD |
|
|
CA381564171 rs1397277925 |
537 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590888616 CA381564198 |
539 | R>K | No |
ClinGen Ensembl |
|
|
CA6135805 rs757377668 |
539 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs749233312 CA381564213 |
541 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749233312 CA6135807 |
541 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754793915 CA6135808 |
542 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754793915 CA381564222 |
542 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533168695 CA224169259 |
543 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778772257 CA6135809 |
545 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6135811 rs148598265 |
549 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200924167 CA6135812 |
550 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381564791 rs1017104614 |
554 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1017104614 CA224169295 |
554 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6135816 rs760086219 |
558 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA381564849 rs1216775159 |
559 | M>T | No |
ClinGen TOPMed |
|
|
CA381564844 rs1280042312 |
559 | M>V | No |
ClinGen TOPMed |
|
|
CA6135817 rs200217917 |
560 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200217917 CA6135818 |
560 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381564871 rs1437691356 |
561 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 562 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374001517 CA6135835 |
562 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381564998 rs78252461 |
566 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6135837 rs201531520 |
567 | E>K | Variant assessed as Somatic; 0.0006932 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6135838 rs201531520 |
567 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770076059 CA224170403 |
569 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs376767821 CA6135839 |
569 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774779559 CA6135840 |
570 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381565033 rs1394641933 COSM1717212 |
570 | H>Y | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1340207620 CA381565075 |
573 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6135843 rs767575876 |
575 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055483357 CA224170420 |
576 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1261634082 CA381565133 |
579 | Q>* | No |
ClinGen gnomAD |
|
|
CA224170429 rs903830489 |
579 | Q>P | No |
ClinGen Ensembl |
|
|
CA6135845 rs760630916 |
581 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6135846 rs760630916 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238203651 CA381565171 |
583 | T>P | No |
ClinGen Ensembl |
|
|
CA381565190 rs1240603825 |
584 | K>N | No |
ClinGen TOPMed |
|
|
rs1203800592 CA381565180 |
584 | K>Q | No |
ClinGen gnomAD |
|
|
rs899097352 CA224170441 |
585 | G>E | No |
ClinGen TOPMed |
|
|
rs1565091305 CA381565217 |
587 | Q>R | No |
ClinGen Ensembl |
|
|
CA381565234 rs1260601184 |
588 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 589 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135847 rs151106240 |
589 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202051235 CA6135848 |
590 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1565091322 CA381565258 |
591 | R>K | No |
ClinGen Ensembl |
|
|
CA381565283 rs1274239272 |
593 | P>L | No |
ClinGen TOPMed |
|
|
CA224170457 rs368033449 |
593 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA224170459 rs368033449 |
593 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 594 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6135850 rs751291592 |
596 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs139694487 CA6135851 |
598 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381565338 TCGA novel rs1590890185 |
599 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA6135852 rs372658841 |
600 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_057133 CA6135853 rs1573536 |
600 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1565091346 CA381565375 |
602 | S>A | No |
ClinGen Ensembl |
|
|
CA381565391 rs1314789910 |
603 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6135855 rs780664675 |
605 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381565419 rs1371271462 |
606 | L>P | No |
ClinGen TOPMed |
|
|
CA381565442 rs1308304292 |
608 | G>C | No |
ClinGen gnomAD |
|
|
CA224170479 rs545788712 |
609 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769216171 CA6135857 |
610 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381565477 rs147908277 |
611 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147908277 CA6135858 |
611 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762218834 CA6135859 |
612 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773275703 CA6135861 |
615 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772369849 CA6135860 |
615 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224170532 rs914078369 |
616 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 618 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141623342 CA6135866 |
622 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763964834 CA6135871 |
623 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1313285197 CA381565646 |
623 | E>K | No |
ClinGen gnomAD |
|
|
CA381565699 rs1373919932 |
625 | G>E | No |
ClinGen gnomAD |
|
|
CA6135872 rs751381441 |
626 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381565711 rs756966194 |
627 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756966194 CA6135873 |
627 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs767244033 CA6135874 |
629 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381565743 rs767244033 |
629 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 631 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590890306 CA381565779 |
631 | G>E | No |
ClinGen Ensembl |
|
|
CA224170591 rs377137268 |
632 | E>D | No |
ClinGen ESP |
|
|
CA6135876 rs755712522 |
633 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA224170634 rs750507786 |
638 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381565944 rs1204538904 |
641 | F>L | No |
ClinGen gnomAD |
|
|
CA6135879 rs143186320 |
642 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6135881 rs151267958 |
642 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6135880 rs143186320 |
642 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 645 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381566012 rs1435026892 |
647 | Q>* | No |
ClinGen TOPMed |
|
|
rs773542132 CA6135884 |
647 | Q>P | No |
ClinGen ExAC |
|
|
rs773542132 CA381566013 |
647 | Q>R | No |
ClinGen ExAC |
|
|
rs529456261 CA224170675 |
648 | A>S | No |
ClinGen 1000Genomes |
|
|
CA224170677 rs373974857 |
649 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1191590722 CA381566033 |
649 | S>T | No |
ClinGen gnomAD |
|
|
rs747193820 CA6135885 |
650 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1408854161 CA381566056 |
651 | H>Q | No |
ClinGen TOPMed |
|
|
CA224170698 rs996304936 |
652 | D>E | No |
ClinGen TOPMed |
|
|
CA6135887 rs547686495 |
656 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6135889 rs78494651 |
658 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q8TE77
6 regional properties for Q8TE77
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dual specificity phosphatase, catalytic domain | 336 - 464 | IPR000340 |
| domain | Tyrosine-specific protein phosphatases domain | 393 - 448 | IPR000387 |
| domain | DEK, C-terminal | 269 - 324 | IPR014876 |
| active_site | Protein-tyrosine phosphatase, active site | 411 - 421 | IPR016130 |
| domain | Dual specificity protein phosphatase domain | 328 - 469 | IPR020422 |
| domain | Slingshot, N-terminal | 3 - 259 | IPR043588 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| myosin phosphatase activity | Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| protein tyrosine/serine/threonine phosphatase activity | Catalysis of the reactions: protein serine + H2O = protein serine + phosphate; protein threonine phosphate + H2O = protein threonine + phosphate; and protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| negative regulation of actin filament polymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALVTVSRSP | PGSGASTPVG | PWDQAVQRRS | RLQRRQSFAV | LRGAVLGLQD | GGDNDDAAEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSEPTEKAPS | EEELHGDQTD | FGQGSQSPQK | QEEQRQHLHL | MVQLLRPQDD | IRLAAQLEAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RPPRLRYLLV | VSTREGEGLS | QDETVLLGVD | FPDSSSPSCT | LGLVLPLWSD | TQVYLDGDGG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSVTSGGQSR | IFKPISIQTM | WATLQVLHQA | CEAALGSGLV | PGGSALTWAS | HYQERLNSEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SCLNEWTAMA | DLESLRPPSA | EPGGSSEQEQ | MEQAIRAELW | KVLDVSDLES | VTSKEIRQAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELRLGLPLQQ | YRDFIDNQML | LLVAQRDRAS | RIFPHLYLGS | EWNAANLEEL | QRNRVTHILN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MAREIDNFYP | ERFTYHNVRL | WDEESAQLLP | HWKETHRFIE | AARAQGTHVL | VHCKMGVSRS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AATVLAYAMK | QYECSLEQAL | RHVQELRPIA | RPNPGFLRQL | QIYQGILTAS | RQSHVWEQKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GGVSPEEHPA | PEVSTPFPPL | PPEPEGGGEE | KVVGMEESQA | APKEEPGPRP | RINLRGVMRS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ISLLEPSLEL | ESTSETSDMP | EVFSSHESSH | EEPLQPFPQL | ARTKGGQQVD | RGPQPALKSR |
| 610 | 620 | 630 | 640 | 650 | |
| QSVVTLQGSA | VVANRTQAFQ | EQEQGQGQGQ | GEPCISSTPR | FRKVVRQASV | HDSGEEGEA |