Q9Y217
Gene name |
MTMR6 |
Protein name |
Myotubularin-related protein 6 |
Names |
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9107 |
EC number |
3.1.3.64: 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
2 structures for Q9Y217
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YF0 | X-ray | 265 A | A | 1-505 | PDB |
| AF-Q9Y217-F1 | Predicted | AlphaFoldDB |
463 variants for Q9Y217
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1334003439 CA387598873 |
3 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1392461566 CA387598869 |
3 | H>R | No |
ClinGen gnomAD |
|
|
rs779343299 CA6921727 |
4 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247128099 rs996238686 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755332397 CA6921726 |
5 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA247128097 rs996238686 |
5 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs370445501 CA6921725 |
6 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387598853 rs370445501 |
6 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764356839 CA247128091 |
6 | T>S | No |
ClinGen Ensembl |
|
|
CA6921723 rs755660799 |
8 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749965290 CA6921722 |
8 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs746300978 | 9 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283066457 CA387611739 |
9 | V>F | No |
ClinGen gnomAD |
|
|
rs373972921 CA387611729 |
10 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373972921 CA6921700 |
10 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387611709 rs1456450407 |
11 | Q>R | No |
ClinGen gnomAD |
|
|
rs763812697 CA6921697 |
12 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763812697 CA6921698 |
12 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1284569072 CA387611674 |
14 | L>S | No |
ClinGen TOPMed |
|
|
CA387611668 rs1566042343 |
15 | L>F | No |
ClinGen Ensembl |
|
|
CA387611665 rs1326298980 |
15 | L>R | No |
ClinGen TOPMed |
|
|
CA387611664 rs1220303952 |
16 | D>N | No |
ClinGen TOPMed |
|
|
CA247112276 rs758304228 |
17 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956599398 CA247112248 |
17 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6921695 rs761285926 COSM550969 |
19 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1488046144 CA387611634 |
20 | T>S | No |
ClinGen TOPMed |
|
|
rs1198430836 CA387611618 |
22 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201075999 CA6921694 |
22 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759554451 CA6921693 |
24 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs776430914 CA6921692 |
25 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921691 rs767695916 |
26 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA247112203 rs866371460 |
26 | T>S | No |
ClinGen Ensembl |
|
|
rs1282217156 CA387611590 |
27 | G>A | No |
ClinGen gnomAD |
|
|
CA6921690 rs761777003 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774674489 CA6921688 |
32 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768897502 CA6921687 |
34 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs999078942 CA247112166 |
34 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 35 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200532795 CA247112151 |
35 | H>Y | No |
ClinGen Ensembl |
|
|
CA247112113 rs371374084 |
39 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359504442 CA387611517 |
39 | I>T | No |
ClinGen TOPMed |
|
|
CA6921686 rs749462663 |
39 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6921683 rs746451096 |
40 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6921684 rs376766637 |
40 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376766637 CA387611515 |
40 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387611505 rs1470634026 |
41 | S>C | No |
ClinGen gnomAD |
|
|
rs1245745552 CA387611509 |
41 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs542253884 CA387611504 |
42 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6921682 rs542253884 |
42 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387611430 rs1356157916 |
50 | H>Y | No |
ClinGen gnomAD |
|
|
CA387611422 rs1170917427 |
51 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1388562103 CA387611407 |
53 | I>V | No |
ClinGen gnomAD |
|
|
rs1209501000 CA387611390 |
55 | S>L | No |
ClinGen TOPMed |
|
|
rs1023095584 CA387611357 |
60 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1023095584 CA247107715 |
60 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774316319 CA6921670 |
64 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373692629 CA6921669 |
66 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1200951697 CA387611316 |
67 | P>R | No |
ClinGen TOPMed |
|
|
rs73168506 CA6921668 |
69 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436419448 CA387611285 |
72 | C>G | No |
ClinGen gnomAD |
|
|
CA6921667 rs200041102 |
72 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 72 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770198319 CA6921666 |
77 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921664 rs746194230 |
81 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921663 rs150067703 |
81 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746194230 CA387611221 |
81 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921662 rs747495505 |
82 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921661 rs747495505 |
82 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387611209 rs1298619616 |
83 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201847247 CA247107612 |
83 | P>T | No |
ClinGen Ensembl |
|
|
CA387611197 rs1434126621 |
85 | E>G | No |
ClinGen gnomAD |
|
|
rs374866327 CA6921660 |
86 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771706244 CA6921658 |
87 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564587516 CA6921655 |
90 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6921656 rs144877646 |
90 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336139418 CA387611147 |
92 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 94 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372326300 CA6921651 |
97 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372326300 CA6921652 |
97 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387611108 rs1471838382 |
98 | L>P | No |
ClinGen gnomAD |
|
|
rs764224853 CA6921650 |
100 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs781082038 CA6921632 |
102 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387611056 rs1327006185 |
104 | Y>C | No |
ClinGen gnomAD |
|
|
CA387611048 rs1452966856 |
105 | E>A | No |
ClinGen TOPMed |
|
|
rs758510620 CA6921631 |
106 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387611040 rs758510620 |
106 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387611035 rs1367231010 |
107 | L>F | No |
ClinGen TOPMed |
|
|
CA387611036 rs1367231010 |
107 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387611007 rs1223956564 |
111 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765308332 CA6921629 |
115 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA387610971 rs1384113248 |
116 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6921628 rs201090774 |
117 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6921626 rs766714211 |
118 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6921627 rs758220750 |
118 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761102682 CA6921625 |
119 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA387610939 rs1177768356 |
121 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1177768356 CA387610940 |
121 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772738962 CA6921624 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772738962 CA6921623 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387610918 rs1278455877 |
125 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762361830 CA6921622 |
128 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1490955170 CA387610889 |
129 | D>N | No |
ClinGen TOPMed |
|
|
rs34885345 VAR_057143 CA6921619 |
131 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6921617 COSM550970 rs769522305 |
134 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6921616 rs745628437 |
135 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387610840 rs1204188317 |
136 | R>G | No |
ClinGen gnomAD |
|
|
rs1254054279 CA387610827 |
137 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6921615 rs780920630 |
137 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387610816 rs1156826863 |
139 | V>G | No |
ClinGen TOPMed |
|
|
rs746884993 CA6921613 CA6921614 |
139 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA387610813 rs1308303531 |
140 | P>S | No |
ClinGen gnomAD |
|
|
rs755074192 CA6921611 |
141 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755074192 CA6921612 |
141 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387610797 rs1302290106 |
143 | H>N | No |
ClinGen TOPMed |
|
|
CA6921609 rs766594014 |
143 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756366833 CA6921608 |
145 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs78343284 CA247106191 |
146 | L>V | No |
ClinGen TOPMed |
|
|
CA6921607 rs750840801 |
147 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs201602182 CA6921606 |
148 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921605 rs142949277 |
150 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA247106173 rs142949277 |
150 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116067614 CA247106133 |
151 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116067614 CA6921603 |
151 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774917676 CA6921604 |
151 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775042821 CA6921601 |
152 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201338283 CA247106115 |
153 | Y>* | No |
ClinGen TOPMed |
|
|
CA247106119 rs992398069 |
153 | Y>H | No |
ClinGen TOPMed |
|
|
CA387610728 rs1206914919 |
154 | K>E | No |
ClinGen TOPMed |
|
|
rs1441803143 CA387610726 |
154 | K>T | No |
ClinGen gnomAD |
|
|
CA387610709 rs1415062972 |
155 | I>F | No |
ClinGen gnomAD |
|
|
rs757680773 CA6921585 |
155 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6921583 rs764628576 |
156 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6921582 rs763327021 |
159 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775083393 CA6921581 |
161 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA387610659 rs1354333789 |
162 | E>D | No |
ClinGen gnomAD |
|
|
CA387610656 rs1281825017 |
163 | L>V | No |
ClinGen gnomAD |
|
|
rs1418461139 CA387610650 |
164 | Y>H | No |
ClinGen TOPMed |
|
|
rs1240365931 CA387610638 |
165 | V>G | No |
ClinGen gnomAD |
|
|
CA387610634 rs1350356028 |
166 | P>H | No |
ClinGen gnomAD |
|
|
rs759255438 CA6921579 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008845745 CA247105887 |
167 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1407077283 CA387610623 |
168 | I>M | No |
ClinGen gnomAD |
|
|
rs765129815 CA6921577 |
168 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs893651931 CA247105865 |
175 | V>G | No |
ClinGen TOPMed |
|
|
CA6921576 rs776255478 |
177 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1404313743 CA387610557 |
178 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760490843 CA6921574 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6921575 rs770766364 |
181 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387610524 rs1271151050 |
183 | K>N | No |
ClinGen TOPMed |
|
|
rs567451807 CA6921573 |
183 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 185 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921572 rs772069465 |
186 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179751603 CA387610500 |
187 | P>S | No |
ClinGen gnomAD |
|
|
rs553822893 CA6921571 |
188 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs999283486 CA247105852 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780287250 CA6921570 |
189 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769988246 CA6921569 |
192 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746149245 CA6921568 |
193 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387610454 rs1329083341 |
194 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6921567 rs146343671 |
195 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142057652 CA6921565 |
197 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463523432 CA387610409 |
199 | A>T | No |
ClinGen TOPMed |
|
|
rs745911676 CA6921550 |
199 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781377017 CA6921549 |
202 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387610387 rs1363792767 |
202 | R>Q | No |
ClinGen gnomAD |
|
|
CA387610385 rs1456705003 |
203 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778201758 CA6921546 |
206 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267018881 CA387610346 |
208 | S>C | No |
ClinGen TOPMed |
|
|
CA387610347 rs1267018881 |
208 | S>Y | No |
ClinGen TOPMed |
|
|
rs755442387 CA6921542 |
219 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6921541 rs753369899 |
219 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387610253 rs1462175660 |
222 | Q>K | No |
ClinGen gnomAD |
|
|
rs750041243 CA6921538 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387610232 rs1439904367 |
225 | S>G | No |
ClinGen gnomAD |
|
|
CA387610231 rs1439904367 |
225 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921537 rs767403256 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921536 rs149526134 |
229 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387610203 rs149526134 |
229 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294814759 CA387610193 |
231 | N>H | No |
ClinGen gnomAD |
|
|
CA387610183 rs1247448479 |
232 | R>C | No |
ClinGen gnomAD |
|
|
rs565072549 CA6921534 |
232 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387610176 rs1283515416 |
233 | Y>C | No |
ClinGen gnomAD |
|
|
CA6921532 rs141278425 |
236 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387610155 rs141278425 |
236 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429371845 CA387610144 |
237 | M>I | No |
ClinGen gnomAD |
|
|
CA6921530 rs747320057 |
237 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs138843894 CA6921531 |
237 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs773288042 CA6921529 |
238 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188749833 CA6921502 |
246 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303791833 CA387609469 |
248 | N>S | No |
ClinGen gnomAD |
|
|
rs1465801628 CA387609455 |
250 | A>V | No |
ClinGen gnomAD |
|
|
CA247100010 rs949294462 |
253 | K>N | No |
ClinGen TOPMed |
|
|
rs1376772961 CA387609434 |
254 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387609429 rs1173511061 |
254 | G>V | No |
ClinGen gnomAD |
|
|
rs1187342106 CA387609398 |
258 | E>D | No |
ClinGen gnomAD |
|
|
rs1452837606 CA387609390 |
259 | D>E | No |
ClinGen TOPMed |
|
|
CA387609393 rs1447590175 |
259 | D>G | No |
ClinGen gnomAD |
|
|
CA6921500 rs745400437 |
260 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387609383 COSM3793220 rs1430653449 |
260 | N>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs745400437 CA6921499 |
260 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247099997 rs916475978 |
261 | Y>C | No |
ClinGen TOPMed |
|
|
rs780703365 CA6921498 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365899712 CA387609350 |
265 | R>S | No |
ClinGen TOPMed |
|
|
CA247099983 rs990707587 |
268 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749423542 CA6921497 |
269 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921496 rs751186788 |
271 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758251074 CA6921494 |
272 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752725814 CA247099945 |
275 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921493 rs752725814 |
275 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759473296 CA6921491 |
277 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113245616 CA247099904 |
279 | S>P | No |
ClinGen Ensembl |
|
|
CA387609238 rs1344847065 |
282 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 282 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762090917 CA6921489 |
284 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6921468 rs191265745 |
288 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439448306 CA387609121 |
289 | G>V | No |
ClinGen TOPMed |
|
|
rs764329479 CA6921467 |
296 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6921466 rs377589798 |
299 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232068281 CA387608920 |
300 | S>P | No |
ClinGen TOPMed |
|
|
CA387608897 rs1593144654 |
301 | G>A | No |
ClinGen Ensembl |
|
|
COSM75480 CA6921464 rs770125533 |
301 | G>S | ovary Variant assessed as Somatic; 0.0 impact. stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6921463 rs760023881 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387608856 rs1443506247 |
304 | S>G | No |
ClinGen TOPMed |
|
|
rs777179785 CA6921462 |
305 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777372172 CA6921459 |
306 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387608808 rs1328876968 |
309 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6921458 rs371573306 |
309 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747774717 CA6921457 |
310 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA387608750 rs1593144607 |
312 | K>E | No |
ClinGen Ensembl |
|
|
CA247099373 rs966964390 |
313 | A>P | No |
ClinGen Ensembl |
|
|
rs754789122 CA6921455 |
314 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199560173 CA6921456 |
314 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6921452 rs756002800 |
315 | M>T | No |
ClinGen ExAC |
|
|
CA6921453 rs779937002 |
315 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387608670 rs1457607425 |
316 | D>G | No |
ClinGen gnomAD |
|
|
CA6921451 rs751659945 |
318 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387608613 rs1593144564 |
319 | I>S | No |
ClinGen Ensembl |
|
|
CA6921450 rs7995033 VAR_024583 |
319 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765574877 CA6921447 |
323 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387608442 rs758487623 |
325 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752908419 CA6921428 |
325 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs758487623 CA6921429 |
325 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449402742 CA387608433 |
326 | T>I | No |
ClinGen gnomAD |
|
|
CA6921427 rs765465503 |
328 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 330 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755109750 CA6921426 |
331 | S>G | No |
ClinGen ExAC |
|
|
rs754271350 CA6921425 |
331 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387608401 rs1443344746 |
331 | S>R | No |
ClinGen gnomAD |
|
|
CA387608397 rs1199504348 |
332 | V>G | No |
ClinGen gnomAD |
|
|
rs766786838 CA6921424 |
332 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1299726189 CA387608392 |
333 | L>* | No |
ClinGen TOPMed |
|
|
rs773843434 CA387608377 |
335 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921422 rs773843434 |
335 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773843434 CA387608378 |
335 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228406646 CA387608369 |
336 | C>F | No |
ClinGen gnomAD |
|
|
rs1384493319 CA387608360 |
338 | D>N | No |
ClinGen TOPMed |
|
|
rs1340825416 CA387608337 |
341 | D>Y | No |
ClinGen gnomAD |
|
|
CA387608319 rs1396906465 |
343 | T>N | No |
ClinGen gnomAD |
|
|
rs1396906465 CA387608318 |
343 | T>S | No |
ClinGen gnomAD |
|
|
CA387608312 rs1311363852 |
344 | S>C | No |
ClinGen TOPMed |
|
|
TCGA novel CA6921418 rs768375071 |
345 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs201046935 CA6921419 |
345 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367847671 CA6921416 |
349 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6921415 rs769573063 |
355 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387608234 rs1253531377 |
357 | Y>H | No |
ClinGen TOPMed |
|
|
rs745859352 CA6921414 |
358 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA247098935 rs145423282 |
359 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs781082057 CA6921413 |
359 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387608214 rs1301554414 |
360 | T>A | No |
ClinGen gnomAD |
|
|
CA387608200 rs1185815005 |
362 | K>E | No |
ClinGen gnomAD |
|
|
rs778804235 CA6921410 |
362 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA6921411 rs778804235 |
362 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs75005059 CA6921409 |
365 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163239794 CA387607656 |
367 | L>S | No |
ClinGen gnomAD |
|
|
rs763445618 CA6921400 |
368 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA247097141 rs724159943 COSM142824 |
372 | W>C | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1253580631 CA387607614 |
373 | I>L | No |
ClinGen gnomAD |
|
|
CA387607608 rs1182425109 |
373 | I>M | No |
ClinGen gnomAD |
|
|
rs762660393 CA6921399 |
374 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA247097130 rs1031846467 |
375 | F>S | No |
ClinGen Ensembl |
|
|
rs775107085 CA6921398 |
378 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 380 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921375 rs759133059 |
384 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546355191 CA247096830 |
387 | D>V | No |
ClinGen 1000Genomes |
|
|
rs1303659495 CA387607491 |
389 | D>Y | No |
ClinGen gnomAD |
|
|
CA6921374 rs577631883 |
391 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770628146 CA6921373 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6921371 rs773005544 |
393 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6921372 rs760724524 |
393 | V>I | No |
ClinGen ExAC |
|
|
CA387607448 rs1483124155 |
396 | V>L | No |
ClinGen gnomAD |
|
|
rs1593142187 CA387607414 |
400 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 402 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387607404 rs1253325956 |
402 | E>Q | No |
ClinGen gnomAD |
|
|
rs887050329 CA247096798 |
403 | C>G | No |
ClinGen Ensembl |
|
|
CA6921370 rs150032485 |
405 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 406 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387607313 rs749413375 |
407 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775665301 CA6921368 |
408 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs139661960 CA6921367 |
409 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387607258 rs1198305928 |
410 | Q>R | No |
ClinGen TOPMed |
|
|
rs1040112845 CA247096753 |
411 | F>L | No |
ClinGen TOPMed |
|
|
rs1246015107 CA387607223 |
412 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781666060 CA6921365 |
413 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs79053319 CA6921364 |
414 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA247096722 rs79053319 |
414 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387607141 rs1248506193 |
417 | F>I | No |
ClinGen gnomAD |
|
|
CA6921363 rs747599856 |
418 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1484753778 CA387607086 |
420 | A>P | No |
ClinGen gnomAD |
|
|
CA387607077 rs1258038397 |
420 | A>V | No |
ClinGen gnomAD |
|
|
rs778111295 CA6921362 COSM432246 |
423 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387607054 rs1566034932 |
423 | L>R | No |
ClinGen Ensembl |
|
|
rs868801491 CA247096719 |
424 | Q>H | No |
ClinGen Ensembl |
|
|
CA387607030 rs1195654020 |
426 | H>L | No |
ClinGen TOPMed |
|
|
rs568415307 CA247096711 |
427 | E>K | No |
ClinGen 1000Genomes |
|
|
CA247096685 rs1049973322 |
429 | I>T | No |
ClinGen TOPMed |
|
|
rs1311260899 CA387606922 |
432 | C>F | No |
ClinGen gnomAD |
|
|
CA387606930 rs1230631567 |
432 | C>S | No |
ClinGen gnomAD |
|
|
rs1044879824 COSM1300099 CA247096679 |
433 | Q>R | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 434 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387606877 rs1453813241 |
434 | F>S | No |
ClinGen TOPMed |
|
|
rs1366639942 CA387606847 |
436 | N>D | No |
ClinGen gnomAD |
|
|
rs764662535 CA6921359 |
438 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754693450 CA6921358 |
441 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6921357 rs755003740 |
443 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387606657 rs1466258370 |
446 | E>G | No |
ClinGen gnomAD |
|
|
CA247096659 rs866722196 |
449 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774413920 CA6921329 |
451 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA247095554 rs770216169 |
452 | E>A | No |
ClinGen Ensembl |
|
|
rs1333109750 CA387606345 |
454 | T>A | No |
ClinGen gnomAD |
|
|
CA6921326 rs776731789 |
460 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA247095503 rs138289796 COSM110035 |
461 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA247095498 rs76317728 |
462 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs771079522 CA6921323 |
463 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210536179 CA387606281 |
464 | D>N | No |
ClinGen TOPMed |
|
|
rs1000771043 CA387606273 |
465 | Q>E | No |
ClinGen TOPMed |
|
|
CA247095495 rs1000771043 |
465 | Q>K | No |
ClinGen TOPMed |
|
|
rs760892112 CA6921322 |
468 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1392882373 CA387606233 |
470 | N>Y | No |
ClinGen gnomAD |
|
|
rs772413591 CA6921320 |
472 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772413591 CA6921321 |
472 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748703971 CA6921319 |
474 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921315 rs779561417 |
476 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs370493335 CA6921316 |
476 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6921314 rs755729166 |
477 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201709535 CA6921312 |
479 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs898703950 CA247095410 |
479 | R>S | No |
ClinGen gnomAD |
|
|
CA387606155 rs1467496727 |
482 | V>D | No |
ClinGen gnomAD |
|
|
rs764158169 CA6921309 |
484 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA247095387 rs113373326 |
485 | P>L | No |
ClinGen Ensembl |
|
|
CA6921308 rs762898535 |
485 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177235355 CA387606117 |
488 | V>G | No |
ClinGen TOPMed |
|
|
CA387606111 rs1464743769 |
489 | S>Y | No |
ClinGen TOPMed |
|
|
CA6921306 rs766414006 |
490 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA247095368 rs1050317428 |
492 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387606082 rs1392113973 |
493 | K>R | No |
ClinGen gnomAD |
|
|
CA387606054 rs1593140769 |
495 | W>* | No |
ClinGen Ensembl |
|
|
rs1246795398 CA387606058 |
495 | W>G | No |
ClinGen TOPMed |
|
| TCGA novel | 498 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921289 rs536417177 |
498 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1593140766 CA387606016 |
500 | H>R | No |
ClinGen Ensembl |
|
|
rs766419466 CA6921288 |
501 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387606006 rs4312169 |
501 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299724359 CA387606000 |
502 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1299724359 CA387606001 |
502 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750462481 CA6921286 |
504 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387605989 rs750462481 |
504 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs923591431 CA247095114 |
504 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6921284 rs761969841 |
511 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774706545 CA6921283 |
513 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432941602 CA387605869 |
514 | N>I | No |
ClinGen gnomAD |
|
|
rs767779503 CA6921282 |
515 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921281 rs763425454 |
516 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387605799 rs1475348458 |
519 | M>T | No |
ClinGen gnomAD |
|
|
CA6921280 rs376021333 |
522 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443797848 CA387605724 |
523 | N>K | No |
ClinGen gnomAD |
|
|
CA6921278 CA6921277 rs144582137 |
525 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209610157 CA387605705 |
525 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1215110238 CA387605665 |
528 | K>E | No |
ClinGen gnomAD |
|
|
CA387605648 rs1338593917 |
529 | D>V | No |
ClinGen gnomAD |
|
|
CA387605597 rs1392892050 |
532 | D>V | No |
ClinGen TOPMed |
|
|
CA387605583 rs1593140671 |
534 | E>Q | No |
ClinGen Ensembl |
|
|
rs1566033462 CA387605389 |
537 | I>T | No |
ClinGen Ensembl |
|
|
CA387605395 rs1352483570 |
537 | I>V | No |
ClinGen gnomAD |
|
|
CA6921258 rs776283308 |
538 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387605376 rs776283308 |
538 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs549090116 CA6921257 |
539 | Q>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA387605360 rs1353339690 |
539 | Q>L | No |
ClinGen gnomAD |
|
|
CA6921256 rs373314805 |
540 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6921255 COSM1477162 rs772892485 |
540 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387605347 rs1270615754 |
541 | K>E | No |
ClinGen gnomAD |
|
|
rs1394234742 CA387605329 |
542 | N>D | No |
ClinGen gnomAD |
|
|
CA387605300 rs1163176147 |
543 | K>N | No |
ClinGen gnomAD |
|
|
CA387605290 rs1474028783 |
544 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387605266 rs1177345644 |
546 | D>E | No |
ClinGen gnomAD |
|
|
CA6921254 rs771584492 |
546 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778518214 CA6921253 COSM271401 |
547 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778518214 CA6921252 |
547 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468824974 CA387605207 |
552 | E>* | No |
ClinGen gnomAD |
|
|
rs529419867 CA6921249 |
555 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1307975343 CA387605137 |
557 | V>F | No |
ClinGen gnomAD |
|
|
CA387605120 rs1223333509 |
558 | H>R | No |
ClinGen gnomAD |
|
|
CA6921248 rs768588132 |
559 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387605092 rs1370832915 |
560 | E>G | No |
ClinGen gnomAD |
|
|
CA387605055 rs1275506895 |
563 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6921246 rs764403960 |
563 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6921245 rs758497194 |
565 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6921244 rs369551344 |
566 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765631183 CA6921243 |
567 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387604973 rs1329576224 |
569 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1241902796 CA387604929 |
573 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921241 rs754381818 |
577 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6921238 rs772548446 |
578 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191590525 CA387604885 |
580 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 580 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921236 rs761308981 |
581 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs771773145 CA6921237 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6921235 rs774272200 |
582 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1280832493 CA387604871 |
583 | R>* | No |
ClinGen gnomAD |
|
|
rs914138599 CA247093546 |
584 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 584 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370994618 CA387604864 |
584 | T>S | No |
ClinGen gnomAD |
|
|
CA6921233 rs749269264 |
585 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6921232 rs779932849 |
585 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749269264 CA6921234 |
585 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6921230 rs747131886 |
589 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6921229 rs149329660 |
590 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755364028 CA6921225 |
591 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387604807 rs1400029494 |
593 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6921224 rs544564911 |
594 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145967757 CA6921222 |
596 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376742718 CA247093476 |
596 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs62619824 CA6921221 |
599 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62619824 CA6921220 |
599 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387604708 rs1259869058 |
607 | P>L | No |
ClinGen gnomAD |
|
|
rs761588107 CA6921217 |
607 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387604699 rs1211735436 |
609 | V>L | No |
ClinGen gnomAD |
|
|
rs1211735436 CA387604700 |
609 | V>M | No |
ClinGen gnomAD |
|
|
CA247093445 rs201631122 |
610 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA387604688 rs1323494607 |
611 | S>C | No |
ClinGen TOPMed |
|
|
rs1278220908 CA387604680 |
612 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 613 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371735160 CA6921216 |
615 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 618 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6921215 rs768476319 |
619 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1295319964 CA387604614 |
621 | C>* | No |
ClinGen gnomAD |
No associated diseases with Q9Y217
1 regional properties for Q9Y217
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Transcription factor CBF/NF-Y/archaeal histone domain | 9 - 73 | IPR003958 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.64 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum-Golgi intermediate compartment | A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+. |
| phosphatidylinositol-3,5-bisphosphate phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol phosphate + phosphate. |
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
| protein serine/threonine phosphatase activity | Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5F452 | MTMR8 | Myotubularin-related protein 8 | Gallus gallus (Chicken) | PR |
| Q86WG5 | SBF2 | Myotubularin-related protein 13 | Homo sapiens (Human) | PR |
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q13613 | MTMR1 | Myotubularin-related protein 1 | Homo sapiens (Human) | PR |
| Q13496 | MTM1 | Myotubularin | Homo sapiens (Human) | PR |
| Q13614 | MTMR2 | Myotubularin-related protein 2 | Homo sapiens (Human) | PR |
| Q96QG7 | MTMR9 | Myotubularin-related protein 9 | Homo sapiens (Human) | PR |
| Q9Y216 | MTMR7 | Myotubularin-related protein 7 | Homo sapiens (Human) | PR |
| Q9Z2C9 | Mtmr7 | Myotubularin-related protein 7 | Mus musculus (Mouse) | PR |
| A2BGG1 | mtmr12 | Myotubularin-related protein 12 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEHIRTTKVE | QVKLLDRFST | SNKSLTGTLY | LTATHLLFID | SHQKETWILH | HHIASVEKLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTTSGCPLVI | QCKNFRTVHF | IVPRERDCHD | IYNSLLQLSK | QAKYEDLYAF | SYNPKQNDSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLQGWQLIDL | AEEYKRMGVP | NSHWQLSDAN | RDYKICETYP | RELYVPRIAS | KPIIVGSSKF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSKGRFPVLS | YYHQDKEAAI | CRCSQPLSGF | SARCLEDEHL | LQAISKANPV | NRYMYVMDTR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKLNAMANRA | AGKGYENEDN | YSNIRFQFVG | IENIHVMRSS | LQKLLEVNGT | KGLSVNDFYS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLESSGWLRH | IKAVMDAAIF | LAKAITVENA | SVLVHCSDGW | DRTSQVCSLG | SLLLDSYYRT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKGFMVLIEK | DWISFGHKFS | ERCGQLDGDP | KEVSPVFTQF | LECVWHLTEQ | FPQAFEFSEA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLLQIHEHIH | SCQFGNFLGN | CQKEREELKL | KEKTYSLWPF | LLEDQKKYLN | PLYSSESHRF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TVLEPNTVSF | NFKFWRNMYH | QFDRTLHPRQ | SVFNIIMNMN | EQNKQLEKDI | KDLESKIKQR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KNKQTDGILT | KELLHSVHPE | SPNLKTSLCF | KEQTLLPVND | ALRTIEGSSP | ADNRYSEYAE |
| 610 | 620 | ||||
| EFSKSEPAVV | SLEYGVARMT | C |