Q96DU7
PR
Gene name |
ITPKC |
Protein name |
Inositol-trisphosphate 3-kinase C |
Names |
Activating NK receptor, NK-T-B-antigen, NTB-A, Inositol 1,4,5-trisphosphate 3-kinase C, IP3 3-kinase C, IP3K C, InsP 3-kinase C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80271 |
EC number |
2.7.1.127: Phosphotransferases with an alcohol group as acceptor |
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 Q96DU7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A98 | X-ray | 260 A | A | 425-683 | PDB |
| AF-Q96DU7-F1 | Predicted | AlphaFoldDB |
576 variants for Q96DU7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA308452840 rs1037966352 |
2 | R>K | No |
ClinGen TOPMed |
|
|
rs887124994 CA405969638 |
3 | R>C | No |
ClinGen TOPMed |
|
|
rs887124994 CA308452847 |
3 | R>S | No |
ClinGen TOPMed |
|
|
rs1364724476 CA405969656 |
4 | C>F | No |
ClinGen gnomAD |
|
|
CA405969691 rs1369523420 |
6 | C>Y | No |
ClinGen TOPMed |
|
|
CA405969709 rs1300642263 |
7 | R>C | No |
ClinGen TOPMed |
|
|
rs1369674076 CA405969766 |
9 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1374731750 CA405969772 |
10 | L>V | No |
ClinGen TOPMed |
|
|
rs1297929349 CA405969845 |
13 | A>V | No |
ClinGen TOPMed |
|
|
CA405969909 rs1377501076 |
18 | L>P | No |
ClinGen TOPMed |
|
|
rs1433664470 CA405969921 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA405969937 rs1174426716 |
21 | A>T | No |
ClinGen TOPMed |
|
|
rs890908033 CA308452871 |
22 | A>D | No |
ClinGen TOPMed |
|
|
rs1393298473 CA405969954 |
22 | A>P | No |
ClinGen TOPMed |
|
|
CA405969977 rs1394630904 |
24 | M>K | No |
ClinGen gnomAD |
|
|
rs1251220817 CA405969994 |
25 | G>E | No |
ClinGen TOPMed |
|
|
CA308452874 rs1008450178 |
25 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1599644403 CA405970002 |
26 | L>Q | No |
ClinGen Ensembl |
|
|
CA405970063 rs1403076057 |
31 | G>E | No |
ClinGen Ensembl |
|
|
CA308452897 rs899710216 |
32 | G>E | No |
ClinGen TOPMed |
|
|
CA405970103 rs1211080814 |
35 | R>L | No |
ClinGen TOPMed |
|
|
rs540953045 CA9450578 |
38 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253701646 CA405970142 |
39 | Q>K | No |
ClinGen TOPMed |
|
|
rs1318023137 CA405970233 |
46 | A>S | No |
ClinGen TOPMed |
|
|
CA9450580 rs745399111 |
48 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1209468931 CA405970252 |
48 | A>S | No |
ClinGen gnomAD |
|
|
rs1306998484 CA405970271 |
49 | P>L | No |
ClinGen TOPMed |
|
|
rs1198506288 CA405970279 |
50 | A>V | No |
ClinGen gnomAD |
|
|
CA405970291 rs1255280068 |
51 | G>E | No |
ClinGen gnomAD |
|
|
CA405970312 rs1313895474 |
53 | P>L | No |
ClinGen TOPMed |
|
|
CA9450583 rs746697179 |
54 | E>A | No |
ClinGen ExAC TOPMed |
|
|
CA405970325 rs746697179 |
54 | E>V | No |
ClinGen ExAC TOPMed |
|
|
rs185356090 CA9450584 CA9450586 |
55 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158198212 CA405970334 |
55 | G>V | No |
ClinGen TOPMed |
|
|
rs185356090 CA9450585 |
55 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405970340 rs1471949163 |
56 | G>S | No |
ClinGen gnomAD |
|
|
rs1188429817 CA405970354 |
57 | G>R | No |
ClinGen TOPMed |
|
|
CA405970362 rs1159256519 |
57 | G>V | No |
ClinGen gnomAD |
|
|
rs1347431630 CA405970366 |
58 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769746242 CA405970400 |
60 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769746242 CA9450587 |
60 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762850257 CA9450589 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308452976 rs927491863 |
61 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9450591 rs751648466 |
64 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405970458 rs1229046255 |
65 | S>F | No |
ClinGen gnomAD |
|
|
CA9450592 rs759679999 |
65 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753022679 CA9450594 |
66 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1230904753 CA405970461 |
66 | S>N | No |
ClinGen gnomAD |
|
|
CA9450596 rs778251443 |
68 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1294264695 CA405970482 |
69 | S>N | No |
ClinGen TOPMed |
|
|
CA9450597 rs754445191 |
70 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002776756 CA308453019 |
71 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9450600 rs746463003 |
73 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs779496193 CA9450599 |
73 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA9450601 rs754601988 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450602 rs780848531 |
74 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396233337 CA405970560 |
75 | G>D | No |
ClinGen gnomAD |
|
|
rs1384268467 CA405970551 |
75 | G>S | No |
ClinGen TOPMed |
|
|
rs1032539966 CA308453063 |
77 | G>E | No |
ClinGen TOPMed |
|
|
CA308453065 rs562651355 |
78 | P>R | No |
ClinGen 1000Genomes |
|
|
CA405970589 rs1306604485 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs1218754508 CA405970640 |
82 | T>S | No |
ClinGen gnomAD |
|
|
CA9450604 rs769620376 |
83 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772973828 CA9450605 |
84 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772973828 CA405970666 |
84 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770900237 CA9450607 |
85 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759609988 CA308453105 |
85 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759609988 CA9450609 |
85 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770900237 CA9450608 |
85 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487189735 CA405970696 |
86 | Q>* | No |
ClinGen gnomAD |
|
|
CA405970701 rs1190175867 |
86 | Q>R | No |
ClinGen gnomAD |
|
|
CA9450611 rs775890429 |
88 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA405970737 rs1254138558 |
88 | E>K | No |
ClinGen gnomAD |
|
|
CA405970759 rs1167081837 |
89 | F>Y | No |
ClinGen gnomAD |
|
|
CA308453133 rs989928877 |
90 | W>C | No |
ClinGen TOPMed |
|
|
rs760957025 CA9450612 |
90 | W>R | No |
ClinGen ExAC |
|
|
rs764610065 CA9450613 |
90 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA405970801 rs1410887821 |
91 | T>A | No |
ClinGen gnomAD |
|
|
CA9450614 rs754248748 |
91 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308453162 rs757842243 |
92 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867939769 CA308453178 |
97 | P>T | No |
ClinGen Ensembl |
|
|
rs1326101264 CA405970933 |
98 | A>S | No |
ClinGen TOPMed |
|
|
rs780537334 CA9450619 |
98 | A>V | Variant assessed as Somatic; 9.275e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747851003 CA9450620 |
99 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs199789043 CA9450621 |
100 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9450623 rs368969075 |
101 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373077576 CA405970979 |
101 | G>S | No |
ClinGen TOPMed |
|
|
CA9450622 rs368969075 |
101 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450625 CA405971010 rs76358638 |
103 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405971033 rs1599644700 |
104 | V>G | No |
ClinGen Ensembl |
|
|
rs745757732 CA9450626 |
104 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273843857 CA405971069 |
106 | T>A | No |
ClinGen gnomAD |
|
|
CA405971098 rs1187157853 |
107 | E>G | No |
ClinGen gnomAD |
|
|
CA9450628 rs775698126 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405971085 rs775698126 |
107 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405971114 rs1247988891 |
108 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373204004 CA9450630 |
108 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405971150 rs1188711191 |
109 | P>L | No |
ClinGen gnomAD |
|
|
rs1179989066 CA405971172 |
110 | K>N | No |
ClinGen gnomAD |
|
|
CA405971201 rs1259859083 |
112 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762190765 CA9450632 |
112 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs765693894 CA9450633 |
114 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1396699610 CA405971251 |
115 | P>L | No |
ClinGen gnomAD |
|
|
rs145275994 CA9450634 |
116 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201718287 COSM4140662 CA9450635 |
117 | R>S | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs767117235 CA405971303 |
118 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450637 rs752202075 |
118 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767117235 CA9450636 |
118 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767117235 CA405971305 |
118 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405971323 rs1271779340 |
119 | S>G | No |
ClinGen gnomAD |
|
|
rs1275501019 CA405971350 |
120 | L>R | No |
ClinGen TOPMed |
|
|
rs147197497 CA9450638 |
121 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405971403 rs1336248833 |
123 | H>L | No |
ClinGen gnomAD |
|
|
rs920150179 CA308453256 |
123 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450640 rs753661842 |
127 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757111148 CA9450641 |
128 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140478209 CA9450643 |
132 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1218380997 CA405971552 |
132 | E>K | No |
ClinGen gnomAD |
|
|
CA405971574 rs1472682473 |
133 | T>K | No |
ClinGen gnomAD |
|
|
rs763251637 CA308453285 |
136 | L>P | No |
ClinGen gnomAD |
|
|
rs763251637 CA405971617 |
136 | L>R | No |
ClinGen gnomAD |
|
|
CA9450645 rs780283421 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1302797805 CA405971678 |
137 | W>C | No |
ClinGen TOPMed |
|
|
rs1158570851 CA405971703 |
138 | T>M | No |
ClinGen gnomAD |
|
|
rs1384153828 CA405971740 |
139 | E>D | No |
ClinGen gnomAD |
|
|
CA405971745 rs1401271626 |
140 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747026846 CA9450646 |
140 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1401271626 CA405971746 |
140 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9450647 rs145479132 |
143 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405971894 rs1357031581 |
145 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1226008839 CA405971937 |
146 | W>S | No |
ClinGen gnomAD |
|
|
rs770244114 CA9450650 |
147 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773439482 CA9450651 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405971996 rs773439482 |
149 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763588386 CA9450652 |
150 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405972017 rs1225919667 |
150 | H>Y | No |
ClinGen gnomAD |
|
|
rs766807689 CA9450653 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9450655 rs569410899 |
153 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9450657 rs539957204 |
154 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405972143 rs1364393715 |
155 | Q>R | No |
ClinGen gnomAD |
|
|
CA405972155 rs1471200533 |
156 | F>L | No |
ClinGen gnomAD |
|
|
rs756845705 CA9450658 |
157 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9450659 rs778833749 |
162 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs750116450 CA9450660 |
163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405973453 rs1568446510 |
164 | W>* | No |
ClinGen Ensembl |
|
|
CA405973442 rs1414956349 |
164 | W>R | No |
ClinGen gnomAD |
|
|
rs1407676978 CA405973542 |
168 | G>R | No |
ClinGen gnomAD |
|
|
rs1599644916 CA405973592 |
169 | V>G | No |
ClinGen Ensembl |
|
|
CA9450663 rs780091351 |
170 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450662 rs780091351 |
170 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443766793 CA405973646 |
172 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1293085301 CA405973643 |
172 | P>S | No |
ClinGen gnomAD |
|
|
rs1213230132 CA405973721 |
174 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 178 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151059025 CA9450666 |
179 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450665 rs151059025 |
179 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308453336 rs899609945 |
179 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA405973846 rs1230313833 |
180 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308453342 rs762621778 |
181 | S>P | No |
ClinGen Ensembl |
|
|
CA9450668 rs769907562 |
185 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405973957 rs769907562 |
185 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9450667 rs748464258 |
185 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195372764 CA405974011 |
187 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1195372764 CA405974018 |
187 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1305977768 CA405974040 |
188 | V>I | No |
ClinGen TOPMed |
|
|
CA9450669 rs773633865 |
189 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA633467625 rs1196915881 |
191 | W>* | No |
ClinGen gnomAD |
|
|
rs1453795504 CA405974186 |
191 | W>C | No |
ClinGen gnomAD |
|
|
CA405974214 rs1174018034 |
192 | A>G | No |
ClinGen gnomAD |
|
|
CA405974218 rs1174018034 |
192 | A>V | No |
ClinGen gnomAD |
|
|
CA9450671 rs771455444 |
193 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA308453362 rs1053634502 |
194 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9450672 rs111989226 |
195 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405974278 rs111989226 |
195 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450673 rs373831391 |
197 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9450674 rs373831391 |
197 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753282561 CA405974391 |
198 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs753282561 CA9450675 |
198 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1411120391 CA405974458 |
200 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9450676 rs138657519 |
202 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405974516 rs1599645025 |
202 | S>P | No |
ClinGen Ensembl |
|
|
CA9450677 rs138657519 |
202 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9450678 rs750253057 |
203 | S>I | No |
ClinGen ExAC |
|
|
rs758228383 CA9450679 |
206 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450680 rs766246046 |
207 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227187192 CA405974713 |
209 | E>G | No |
ClinGen gnomAD |
|
|
CA405974746 rs1599645051 |
210 | G>V | No |
ClinGen Ensembl |
|
|
CA308453411 rs1034426065 |
211 | A>D | No |
ClinGen TOPMed |
|
|
rs967152114 CA308453406 |
211 | A>S | No |
ClinGen Ensembl |
|
|
CA405974783 rs1034426065 |
211 | A>V | No |
ClinGen TOPMed |
|
|
CA9450683 rs145684932 |
212 | C>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1224219621 CA405974816 |
213 | P>A | No |
ClinGen TOPMed |
|
|
rs1224219621 CA405974818 |
213 | P>S | No |
ClinGen TOPMed |
|
|
rs748111839 CA9450685 |
214 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA405974862 rs1328428059 |
215 | K>Q | No |
ClinGen TOPMed |
|
|
rs1208134290 CA405974980 |
218 | S>N | No |
ClinGen gnomAD |
|
|
CA405974983 rs1208134290 |
218 | S>T | No |
ClinGen gnomAD |
|
|
CA308453440 rs762192951 |
221 | G>D | No |
ClinGen Ensembl |
|
|
CA9450686 rs767825014 |
222 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405975090 rs767825014 |
222 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370975687 CA9450687 |
223 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1194111023 CA405975131 |
224 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405975227 rs1254850593 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
rs1445359994 CA405975262 |
228 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1318444139 CA405975275 |
229 | D>H | No |
ClinGen TOPMed |
|
|
rs774682146 CA9450690 |
233 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA405975353 rs1373566113 |
234 | Q>R | No |
ClinGen gnomAD |
|
|
CA405975384 rs1393009306 |
236 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9450692 rs76785336 |
236 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA308453463 rs750902552 |
239 | G>S | No |
ClinGen Ensembl |
|
|
CA405975444 rs1387162529 |
241 | W>* | No |
ClinGen gnomAD |
|
|
CA9450693 rs73931352 |
241 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145872081 CA9450695 |
243 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761178236 CA9450694 |
243 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328415522 CA405975483 |
244 | P>S | No |
ClinGen gnomAD |
|
|
CA9450697 rs762674299 |
245 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9450699 rs751399316 |
246 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766336081 CA9450698 |
246 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA405975517 rs1242732091 |
247 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450700 rs201787202 |
252 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767303907 CA9450701 |
253 | Q>E | No |
ClinGen ExAC gnomAD |
|
| rs1484889842 | 253 | Q>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185290187 CA405975626 |
256 | E>* | No |
ClinGen gnomAD |
|
|
CA405975624 rs1185290187 |
256 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405975632 rs1416740398 |
257 | A>T | No |
ClinGen gnomAD |
|
|
rs538462093 CA9450703 |
258 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538462093 CA405975642 |
258 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9450704 rs138437975 |
260 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405975657 rs1215328448 |
260 | K>R | No |
ClinGen TOPMed |
|
|
rs1400581054 CA405975716 |
264 | T>P | No |
ClinGen gnomAD |
|
|
rs779252153 CA405975740 |
265 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450706 rs143099284 |
265 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450707 rs779252153 |
265 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405975760 rs1312450401 |
266 | G>A | No |
ClinGen gnomAD |
|
|
CA405975755 rs182643309 |
266 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182643309 CA9450708 |
266 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405975761 rs1312450401 |
266 | G>V | No |
ClinGen gnomAD |
|
|
CA9450709 rs772588804 |
270 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA308453519 rs772588804 |
270 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA308453523 rs975495802 |
271 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA308453528 rs1046364044 |
274 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368197053 CA9450712 |
276 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9450713 rs772767863 |
279 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA405976165 rs1256333628 |
281 | S>G | No |
ClinGen gnomAD |
|
|
CA405976209 rs1163155245 |
283 | D>N | No |
ClinGen TOPMed |
|
|
CA9450716 rs372575481 |
284 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9450715 rs148218929 |
284 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs894087314 CA308453571 |
288 | A>S | No |
ClinGen Ensembl |
|
|
rs760643980 CA9450720 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375843734 CA405976361 |
289 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450721 rs375843734 |
289 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308453585 rs754452479 |
290 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9450723 rs370167259 |
291 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296669622 CA405976430 |
292 | D>H | No |
ClinGen gnomAD |
|
|
rs1372645464 CA405976473 |
293 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9450725 rs750816910 |
294 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405976514 rs1339377582 |
295 | L>W | No |
ClinGen TOPMed |
|
|
CA308453603 rs371348108 |
297 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs758730025 CA9450726 |
297 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9450727 rs780443913 |
298 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450729 rs375750523 |
300 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375750523 CA9450728 |
300 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230852329 CA405976571 |
301 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777429333 CA9450730 |
301 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA308453621 rs963757366 |
302 | P>R | No |
ClinGen Ensembl |
|
|
CA405976590 rs1177327341 |
303 | L>S | No |
ClinGen gnomAD |
|
|
rs1366694991 CA405976679 |
307 | E>G | No |
ClinGen Ensembl |
|
|
CA405976663 rs1453177003 |
307 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs373480742 CA308453625 |
308 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9450734 rs759237787 |
310 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1026902298 CA308453631 |
313 | T>S | No |
ClinGen Ensembl |
|
|
CA9450735 rs771815654 |
314 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA308453636 rs377575949 |
316 | Y>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA308453642 rs982567602 |
317 | S>C | No |
ClinGen Ensembl |
|
|
rs1433681624 CA405976893 |
317 | S>P | No |
ClinGen TOPMed |
|
|
CA405977008 rs1206674288 |
321 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs572786024 CA9450737 |
321 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9450738 rs369557355 |
322 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 322 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908407684 CA308453661 |
323 | P>S | No |
ClinGen TOPMed |
|
|
rs908407684 CA9450740 |
323 | P>T | No |
ClinGen TOPMed |
|
|
rs376912156 CA9450742 |
325 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236248739 CA405977190 |
326 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA308453673 rs970757768 |
329 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405977344 rs1204587675 |
329 | R>H | No |
ClinGen gnomAD |
|
|
rs1213567405 CA405977438 |
331 | I>M | No |
ClinGen gnomAD |
|
|
rs750694284 CA9450745 |
333 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405977466 rs1599645469 |
333 | T>P | No |
ClinGen Ensembl |
|
|
rs758633372 CA9450746 |
334 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450747 rs780351399 |
334 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405977620 rs1599645492 |
336 | T>P | No |
ClinGen Ensembl |
|
|
CA405977657 rs1429401710 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs751885637 CA9450749 |
340 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405977811 rs1461017668 |
343 | P>L | No |
ClinGen gnomAD |
|
|
CA308453691 rs150721845 |
343 | P>S | No |
ClinGen ESP |
|
| TCGA novel | 344 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405977863 rs1325084554 |
345 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9450751 rs571714443 |
346 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571714443 CA9450752 |
346 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9450753 rs542245669 |
347 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542245669 CA308453699 |
347 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745569630 CA9450756 |
349 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405977965 rs778549880 |
349 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450758 rs775159622 |
350 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9450757 rs771685411 |
350 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760468049 CA9450759 |
351 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308453724 rs866468859 |
351 | E>G | No |
ClinGen Ensembl |
|
|
rs371358958 CA405978062 |
352 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371358958 CA9450760 |
352 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405978064 rs371358958 |
352 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054229483 CA308453733 |
352 | G>W | No |
ClinGen Ensembl |
|
|
rs1330462609 CA405978087 |
353 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137870702 CA9450761 |
353 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1227006633 CA405978127 |
355 | G>R | No |
ClinGen TOPMed |
|
|
rs1227006633 CA405978124 |
355 | G>S | No |
ClinGen TOPMed |
|
|
CA9450763 rs61737678 |
356 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450762 rs561280468 |
356 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405978180 rs61737678 |
356 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773278220 CA405978258 |
359 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9450764 rs773278220 |
359 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763091217 CA405978339 |
362 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405978318 rs1568446931 |
362 | S>T | No |
ClinGen Ensembl |
|
|
rs763091217 CA9450765 |
362 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766567652 CA9450766 |
363 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9450767 rs143757004 |
364 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs945632213 CA308453754 |
364 | D>Y | No |
ClinGen Ensembl |
|
|
CA405978451 rs1328483650 |
365 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9450769 rs767965772 |
365 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9450771 rs753310722 |
370 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405978661 rs1371887458 |
372 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 374 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308453770 rs374744209 |
377 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs573102661 CA9450775 |
379 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405978756 rs1255633562 |
379 | D>V | No |
ClinGen gnomAD |
|
|
CA308453783 rs573102661 |
379 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485506677 CA405978795 |
380 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9450776 rs758008086 |
382 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259622027 CA405978859 |
383 | R>W | No |
ClinGen gnomAD |
|
|
CA405978874 rs1266430690 |
384 | S>C | No |
ClinGen TOPMed |
|
|
rs1468695280 CA405978876 |
385 | G>R | No |
ClinGen gnomAD |
|
|
rs1327679861 CA405981954 |
388 | P>R | No |
ClinGen gnomAD |
|
|
rs757965833 CA9450793 |
388 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405982017 rs1336859615 |
390 | K>N | No |
ClinGen gnomAD |
|
|
rs201664820 CA9450794 |
391 | K>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs983722236 CA308462224 |
391 | K>R | No |
ClinGen gnomAD |
|
|
CA308462239 rs547819857 |
393 | K>R | No |
ClinGen Ensembl |
|
|
rs748714982 CA308462249 |
394 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA308462248 rs748714982 |
394 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405982293 rs1355026070 |
398 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1463399968 CA405982264 |
398 | Y>H | No |
ClinGen TOPMed |
|
|
CA9450797 rs780971597 |
400 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA405982403 rs1363630097 |
401 | F>S | No |
ClinGen gnomAD |
|
|
rs1273727819 CA405982415 |
402 | V>L | No |
ClinGen gnomAD |
|
|
CA9450798 rs34603056 |
403 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202047205 CA9450799 |
404 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405982520 rs1251089652 |
406 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777728837 CA9450800 COSM996817 |
406 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9450801 rs144311008 |
408 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9450802 rs201559024 |
410 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201559024 CA308462289 |
410 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9450805 rs772360087 |
411 | W>* | No |
ClinGen ExAC |
|
|
CA9450804 rs759839145 |
411 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308462306 rs946797468 |
412 | V>F | No |
ClinGen Ensembl |
|
|
CA9450806 rs776016950 |
413 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 415 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450809 rs754417261 |
418 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs764332951 CA9450808 |
418 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764332951 CA405982962 |
418 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9450834 rs752398741 |
420 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757237709 CA9450838 |
424 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778673488 CA9450839 |
425 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450840 rs369305104 |
426 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450841 rs142308355 |
428 | R>Q | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA405984349 rs1362679377 |
428 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA405984371 rs1312505687 |
430 | L>V | No |
ClinGen gnomAD |
|
|
rs913354890 CA308465074 |
432 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780267002 CA9450843 |
432 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780267002 CA9450842 |
432 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9450844 rs373104401 |
434 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405984458 rs1481311927 |
436 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405984495 rs1333975906 |
439 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs112628847 CA9450845 |
439 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112628847 CA405984499 |
439 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370620477 CA308465085 |
440 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9450847 rs770366804 |
441 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA405984526 rs1568449971 |
442 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773751212 CA9450848 |
443 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs767075589 CA9450850 |
445 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9450851 rs774980784 |
448 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9450853 rs763601962 |
450 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753695795 CA9450854 |
450 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1179832725 CA405984644 |
451 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA405984666 rs1433284123 |
453 | V>M | No |
ClinGen gnomAD |
|
|
rs944730339 CA308465147 |
457 | Y>* | No |
ClinGen TOPMed |
|
|
rs907858196 CA308465142 |
457 | Y>C | No |
ClinGen TOPMed |
|
|
CA9450857 rs750442375 |
457 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA308465149 rs900601396 |
458 | G>S | No |
ClinGen TOPMed |
|
|
rs758404959 CA9450858 |
459 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308465155 rs758404959 |
459 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445870204 CA405984774 |
461 | L>R | No |
ClinGen gnomAD |
|
|
rs1406692595 CA405984793 |
463 | D>N | No |
ClinGen TOPMed |
|
|
CA9450859 rs780285372 |
464 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA405984837 rs1231873309 |
466 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405984904 rs755251942 CA9450861 |
469 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1333298626 CA405984892 |
469 | Q>K | No |
ClinGen TOPMed |
|
|
CA9450862 rs781232808 |
470 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1190525239 CA405984987 |
475 | A>G | No |
ClinGen gnomAD |
|
|
CA405984991 rs1249056087 |
476 | D>N | No |
ClinGen gnomAD |
|
|
CA405985041 rs376093815 |
479 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450863 rs376093815 |
479 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376093815 CA308465185 |
479 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405985060 rs1199778126 |
481 | S>F | No |
ClinGen gnomAD |
|
|
CA405985081 rs1163254601 |
483 | M>T | No |
ClinGen gnomAD |
|
|
rs1452923400 CA405985075 |
483 | M>V | No |
ClinGen gnomAD |
|
|
rs773556820 CA9450865 |
485 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs773556820 CA405985103 |
485 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1426113410 CA405985152 |
487 | M>I | No |
ClinGen gnomAD |
|
|
rs1378000558 CA405985139 |
487 | M>L | No |
ClinGen TOPMed |
|
| rs749864734 | 489 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049269721 CA308465205 |
489 | S>T | No |
ClinGen Ensembl |
|
|
rs779431181 CA9450887 |
492 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA405986358 rs1228211408 |
494 | E>K | No |
ClinGen gnomAD |
|
|
rs776140763 CA9450890 |
498 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs781200329 CA405986387 |
498 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9450889 rs781200329 |
498 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1488773789 CA405986393 |
499 | K>Q | No |
ClinGen gnomAD |
|
|
CA9450891 rs761439785 |
500 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs546922007 CA9450894 |
501 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546922007 CA9450893 |
501 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9450892 rs769556058 |
501 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs751472434 CA9450896 |
503 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759457048 CA9450897 |
503 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751472434 CA308467544 |
503 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156733848 CA405986417 |
504 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405986425 rs1319543641 |
505 | R>C | No |
ClinGen TOPMed |
|
|
rs767495962 CA9450898 |
505 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767495962 CA9450899 |
505 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139491097 CA9450900 |
506 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9450901 rs534851140 |
507 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1299689247 CA405986433 |
507 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9450903 rs757643494 |
510 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA405986485 rs1180682596 |
514 | M>V | No |
ClinGen gnomAD |
|
|
rs1285684918 CA405986495 |
515 | V>L | No |
ClinGen gnomAD |
|
|
CA9450904 rs779282020 |
516 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450905 rs746367995 |
518 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405986521 rs1188412284 |
519 | P>L | No |
ClinGen gnomAD |
|
|
rs772629132 CA9450906 |
519 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780625200 CA9450907 |
521 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747324732 CA308467599 |
524 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3226169 rs144541337 CA9450909 |
525 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440102647 CA405986564 |
526 | E>D | No |
ClinGen gnomAD |
|
|
rs1464302119 CA405986565 |
527 | H>Y | No |
ClinGen TOPMed |
|
|
rs1245936382 CA405986585 |
529 | Q>H | No |
ClinGen TOPMed |
|
|
rs1422268337 CA405986599 |
532 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9450911 rs762643545 |
535 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405986621 rs1568451461 |
535 | P>S | No |
ClinGen Ensembl |
|
|
CA9450912 rs770860069 |
536 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405986626 COSM3226171 rs1334311279 |
536 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA405986645 rs1599654371 |
538 | M>I | No |
ClinGen Ensembl |
|
|
CA405986650 rs1271326688 |
539 | Q>R | No |
ClinGen TOPMed |
|
|
CA308467632 rs1026490629 |
541 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 542 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450913 rs200793430 |
543 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759455262 CA9450914 |
544 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378051967 CA405986755 |
549 | T>A | No |
ClinGen gnomAD |
|
|
rs146632462 CA9450915 |
549 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9450917 rs760778484 |
550 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765588961 CA9450921 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450920 rs757405879 |
553 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs372080751 CA9450924 |
555 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372080751 CA9450923 |
555 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388122563 CA405986859 |
556 | G>D | No |
ClinGen TOPMed |
|
|
CA9450925 rs201283276 |
557 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405987901 rs1487069023 |
566 | T>I | No |
ClinGen gnomAD |
|
|
CA405987910 rs1263222326 |
567 | N>D | No |
ClinGen gnomAD |
|
|
CA9450951 rs771918092 |
567 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9450952 rs771918092 |
567 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263222326 CA405987908 |
567 | N>Y | No |
ClinGen gnomAD |
|
|
rs747018981 CA9450953 |
569 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768568733 CA9450954 |
569 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776742395 CA9450955 |
570 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150245504 CA9450956 |
571 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765191343 CA9450957 |
572 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9450958 rs145793510 |
573 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342396921 CA405988019 |
576 | Q>* | No |
ClinGen gnomAD |
|
|
CA405988036 rs1310454782 |
577 | V>A | No |
ClinGen gnomAD |
|
|
rs764198346 CA9450959 |
577 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405988046 rs1339874921 |
578 | T>K | No |
ClinGen gnomAD |
|
|
CA308470493 rs143485134 |
579 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA405988063 rs1351272072 |
579 | K>N | No |
ClinGen gnomAD |
|
|
rs1455629532 CA405988071 |
580 | V>E | No |
ClinGen gnomAD |
|
|
CA405988083 rs1599656749 |
581 | L>R | No |
ClinGen Ensembl |
|
|
CA308470510 rs538947334 |
583 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA405988151 rs768110900 |
586 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405988153 rs1424845190 |
587 | G>R | No |
ClinGen gnomAD |
|
|
CA308470512 rs867715069 |
587 | G>V | No |
ClinGen Ensembl |
|
|
rs1190229632 CA405988159 |
588 | D>N | No |
ClinGen gnomAD |
|
|
rs753218881 CA9450964 COSM3960097 |
589 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9450965 rs376866891 |
590 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9450966 rs376866891 |
590 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176346663 CA405988187 |
591 | I>T | No |
ClinGen TOPMed |
|
|
rs751173291 CA9450987 |
596 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754789349 CA9450988 |
601 | E>G | No |
ClinGen ExAC |
|
|
rs1300194969 CA405988389 |
602 | L>V | No |
ClinGen gnomAD |
|
|
CA308471163 rs904288189 |
603 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9450989 rs143402835 |
603 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405988406 rs143402835 |
603 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317900470 CA405988422 |
605 | A>T | No |
ClinGen gnomAD |
|
|
CA405988431 rs1568452997 |
605 | A>V | No |
ClinGen Ensembl |
|
|
CA308471184 rs998434316 |
608 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308471206 rs140693572 |
610 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140693572 CA9450991 |
610 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405988483 rs1217068226 |
610 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs61159620 CA405988500 |
611 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 611 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282944504 CA405988519 |
613 | K>E | No |
ClinGen TOPMed |
|
|
rs749301440 CA9450993 |
614 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA405989271 rs1234566209 |
617 | V>M | No |
ClinGen TOPMed |
|
|
rs987737669 CA308472938 |
618 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769025038 CA9451019 |
618 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA405989281 rs1437144420 |
619 | G>S | No |
ClinGen TOPMed |
|
|
CA9451021 rs762248697 |
622 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA405989319 rs765878590 |
624 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308472971 rs911792345 |
625 | V>A | No |
ClinGen TOPMed |
|
|
rs773845156 CA405989320 COSM3404250 |
625 | V>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9451023 rs773845156 |
625 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9451026 rs767052439 |
627 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767052439 CA9451025 |
627 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138927292 CA9451028 |
630 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141298994 CA405989377 |
634 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141298994 CA9451029 |
634 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446270115 CA405989389 |
635 | W>C | No |
ClinGen gnomAD |
|
|
CA9451030 rs757259395 |
636 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA405989391 rs1334472989 |
636 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 637 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369550545 CA9451032 |
640 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 647 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747205840 CA9451035 |
647 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599659022 CA405989476 |
648 | H>P | No |
ClinGen Ensembl |
|
|
CA405989489 rs1385409710 |
650 | T>A | No |
ClinGen gnomAD |
|
|
rs768914968 CA405989492 |
650 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768914968 CA9451036 |
650 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748718433 CA9451038 |
651 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405989493 rs748718433 |
651 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748718433 CA405989494 |
651 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770271542 CA9451039 |
652 | S>N | No |
ClinGen ExAC |
|
|
rs367578318 CA9451041 |
654 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405989531 rs1599659074 |
657 | W>R | No |
ClinGen Ensembl |
|
|
CA308473031 rs936749380 |
658 | A>V | No |
ClinGen Ensembl |
|
|
CA405989562 rs1441950587 |
661 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9451042 rs771566690 |
662 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405989589 rs1462482018 |
665 | G>S | No |
ClinGen gnomAD |
|
|
rs1379467655 CA405989619 |
669 | G>D | No |
ClinGen gnomAD |
|
|
CA405989616 rs1318326342 |
669 | G>S | No |
ClinGen TOPMed |
|
|
CA9451046 rs753675043 |
672 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150775554 CA308473077 |
674 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150775554 CA9451047 |
674 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9451048 rs765237283 |
675 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1295584815 CA405989686 |
679 | G>V | No |
ClinGen TOPMed |
|
|
rs906784801 CA308473119 |
679 | G>W | No |
ClinGen TOPMed |
|
|
CA405989695 rs1378120122 |
681 | A>V | No |
ClinGen gnomAD |
|
|
rs1002906298 CA308473137 |
682 | Q>R | No |
ClinGen TOPMed |
|
|
CA405989713 rs1289290817 |
684 | S>R | No |
ClinGen gnomAD |
No associated diseases with Q96DU7
No regional properties for Q96DU7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96DU7 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.127 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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 |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| inositol hexakisphosphate kinase activity | Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + diphospho-1D-myo-inositol-pentakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) is unknown. |
| inositol-1,4,5-trisphosphate 3-kinase activity | Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + 2 H(+). |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| inositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of an inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P23677 | ITPKA | Inositol-trisphosphate 3-kinase A | Homo sapiens (Human) | PR |
| Q92551 | IP6K1 | Inositol hexakisphosphate kinase 1 | Homo sapiens (Human) | PR |
| P27987 | ITPKB | Inositol-trisphosphate 3-kinase B | Homo sapiens (Human) | PR |
| Q8R071 | Itpka | Inositol-trisphosphate 3-kinase A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRCPCRGSL | NEAEAGALPA | AARMGLEAPR | GGRRRQPGQQ | RPGPGAGAPA | GRPEGGGPWA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RTEGSSLHSE | PERAGLGPAP | GTESPQAEFW | TDGQTEPAAA | GLGVETERPK | QKTEPDRSSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTHLEWSWSE | LETTCLWTET | GTDGLWTDPH | RSDLQFQPEE | ASPWTQPGVH | GPWTELETHG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SQTQPERVKS | WADNLWTHQN | SSSLQTHPEG | ACPSKEPSAD | GSWKELYTDG | SRTQQDIEGP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WTEPYTDGSQ | KKQDTEAARK | QPGTGGFQIQ | QDTDGSWTQP | STDGSQTAPG | TDCLLGEPED |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GPLEEPEPGE | LLTHLYSHLK | CSPLCPVPRL | IITPETPEPE | AQPVGPPSRV | EGGSGGFSSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSFDESEDDV | VAGGGGASDP | EDRSGSKPWK | KLKTVLKYSP | FVVSFRKHYP | WVQLSGHAGN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FQAGEDGRIL | KRFCQCEQRS | LEQLMKDPLR | PFVPAYYGMV | LQDGQTFNQM | EDLLADFEGP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SIMDCKMGSR | TYLEEELVKA | RERPRPRKDM | YEKMVAVDPG | APTPEEHAQG | AVTKPRYMQW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RETMSSTSTL | GFRIEGIKKA | DGTCNTNFKK | TQALEQVTKV | LEDFVDGDHV | ILQKYVACLE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELREALEISP | FFKTHEVVGS | SLLFVHDHTG | LAKVWMIDFG | KTVALPDHQT | LSHRLPWAEG |
| 670 | 680 | ||||
| NREDGYLWGL | DNMICLLQGL | AQS |