Q9NTI7
Gene name |
INKA2 |
Protein name |
PAK4-inhibitor INKA2 |
Names |
Induced in neural crest by AP2-alpha protein-related homolog, HInca-r, Inka box actin regulator 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55924 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NTI7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NTI7-F1 | Predicted | AlphaFoldDB |
256 variants for Q9NTI7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1006625 rs779617617 |
2 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341633546 rs1169423012 |
3 | M>I | No |
ClinGen TOPMed |
|
|
rs749901390 CA1006623 |
6 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1006620 rs764184754 |
9 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764184754 CA1006619 |
9 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756832621 CA1006621 |
9 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1436215725 CA341633498 |
10 | C>Y | No |
ClinGen TOPMed |
|
|
rs1273529192 CA341633489 |
11 | Y>C | No |
ClinGen TOPMed |
|
|
rs1188621345 CA341633474 |
13 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341633476 rs1188621345 |
13 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341633469 rs1446985862 |
14 | R>P | No |
ClinGen gnomAD |
|
|
rs752544051 CA1006617 |
16 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA341633458 COSM893875 rs1571596591 |
16 | K>R | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1006615 rs141241151 |
18 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341633445 rs1488978771 |
18 | E>Q | No |
ClinGen gnomAD |
|
|
CA341633436 rs1324763263 |
19 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341633438 rs1244792336 |
19 | L>V | No |
ClinGen gnomAD |
|
|
rs746461949 CA1006585 |
20 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370379166 CA1006586 |
20 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1006584 rs777443274 |
22 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1208150490 CA341641329 |
23 | K>Q | No |
ClinGen TOPMed |
|
|
CA341641308 rs1275439894 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs779057031 CA1006581 |
30 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1006580 rs373131514 |
33 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766474863 CA1006578 |
35 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA1006577 rs756385584 |
36 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341641131 rs756385584 |
36 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426703311 CA341641095 |
37 | M>I | No |
ClinGen gnomAD |
|
|
CA28891907 rs969551656 |
37 | M>K | No |
ClinGen Ensembl |
|
|
rs1416598417 CA341641111 |
37 | M>L | No |
ClinGen gnomAD |
|
|
CA341641086 rs1172607134 |
38 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1006576 rs750694210 |
40 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156301482 CA341641053 |
41 | Q>* | No |
ClinGen TOPMed |
|
|
CA341641020 rs1458040052 |
42 | E>G | No |
ClinGen gnomAD |
|
|
COSM893873 CA341641039 rs1180353240 |
42 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1201699067 CA341640976 |
45 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341640958 rs1313838884 |
46 | L>H | No |
ClinGen gnomAD |
|
|
CA1006574 rs761949517 |
48 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311735015 CA341640911 |
49 | Q>H | No |
ClinGen gnomAD |
|
|
CA341640913 rs1348856670 |
49 | Q>R | No |
ClinGen gnomAD |
|
|
CA1006573 rs752046956 |
50 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006572 rs764672851 |
54 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022682939 CA28891868 |
60 | G>R | No |
ClinGen Ensembl |
|
|
rs202217076 CA28891863 |
61 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA341640730 rs1334290946 |
63 | V>L | No |
ClinGen gnomAD |
|
|
CA341640710 rs1378165479 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs1336846599 CA341640699 |
65 | G>S | No |
ClinGen TOPMed |
|
|
CA341640685 rs1439859118 |
66 | S>I | No |
ClinGen gnomAD |
|
|
CA1006570 rs775954366 |
66 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341640665 rs1384408956 |
67 | P>L | No |
ClinGen gnomAD |
|
|
CA1006569 rs143162290 |
68 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1006568 rs760349464 |
69 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237950993 CA341640603 |
71 | R>S | No |
ClinGen gnomAD |
|
|
CA1006566 rs771701834 |
75 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341640534 rs1197314121 |
76 | H>Y | No |
ClinGen TOPMed |
|
|
rs531482804 CA1006564 |
78 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531482804 CA28891771 |
78 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866041475 CA28891755 |
79 | W>* | No |
ClinGen Ensembl |
|
|
rs1230358614 CA341640485 |
80 | E>K | No |
ClinGen gnomAD |
|
|
rs1230358614 CA341640487 |
80 | E>Q | No |
ClinGen gnomAD |
|
|
CA28891748 rs1006595142 |
81 | G>C | No |
ClinGen TOPMed |
|
|
rs768675152 CA1006563 |
86 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748990798 CA1006562 |
89 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174780355 CA341640257 |
92 | S>F | No |
ClinGen TOPMed |
|
|
CA341640249 rs1419949718 |
93 | P>A | No |
ClinGen gnomAD |
|
|
CA1006561 rs779876709 |
93 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1375540597 CA341640219 |
95 | S>R | No |
ClinGen TOPMed |
|
|
rs1414518180 CA341640163 |
98 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371292774 CA1006559 |
101 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341640113 rs1265465982 |
101 | S>R | No |
ClinGen gnomAD |
|
|
CA341640099 rs1217405304 |
102 | S>N | No |
ClinGen gnomAD |
|
|
rs1571589837 CA341640087 |
103 | T>P | No |
ClinGen Ensembl |
|
|
rs1431089104 CA341640070 |
104 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1490259383 CA341640046 |
105 | F>L | No |
ClinGen gnomAD |
|
|
CA341640011 rs1392952911 |
107 | S>Y | No |
ClinGen gnomAD |
|
|
CA1006558 rs781453283 |
110 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341639963 rs781453283 |
110 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347973212 CA341639957 |
111 | V>I | No |
ClinGen TOPMed |
|
|
CA28891670 rs80140747 |
115 | D>G | No |
ClinGen Ensembl |
|
|
rs145633487 CA1006557 |
118 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322715589 CA341639857 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA1006555 rs764467945 |
120 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341639820 TCGA novel rs1400046356 |
121 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA1006554 rs376399692 |
121 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341639815 rs1344545291 |
121 | R>T | No |
ClinGen gnomAD |
|
|
CA1006553 rs753190443 |
123 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765602502 CA1006552 |
125 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA341639711 rs1480143794 |
128 | C>Y | No |
ClinGen gnomAD |
|
|
CA1006549 rs771859200 |
132 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772982701 CA1006550 |
132 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1006546 rs145067004 |
135 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1006544 rs199666460 |
135 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769619836 CA1006543 |
138 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341639553 rs1557908584 |
139 | D>G | No |
ClinGen Ensembl |
|
|
rs1167149068 CA341639520 |
141 | W>* | No |
ClinGen TOPMed |
|
|
CA28891501 rs925490875 |
141 | W>L | No |
ClinGen Ensembl |
|
|
CA341639517 rs1201406661 |
142 | T>A | No |
ClinGen gnomAD |
|
|
CA341639518 rs1201406661 |
142 | T>P | No |
ClinGen gnomAD |
|
|
rs868792785 CA28891497 |
143 | S>F | No |
ClinGen Ensembl |
|
|
rs141026018 CA1006540 |
144 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571589688 CA341639498 |
144 | T>P | No |
ClinGen Ensembl |
|
|
CA341639471 rs1296505439 |
146 | M>I | No |
ClinGen TOPMed |
|
|
CA341639475 rs777883892 |
146 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006537 rs777883892 |
146 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006536 rs529338359 |
147 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142952172 CA1006534 |
148 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341639454 rs142952172 |
148 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1006533 rs142952172 |
148 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778981316 CA28891452 |
148 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316959367 CA341639446 |
149 | G>D | No |
ClinGen TOPMed |
|
|
rs374661986 CA1006530 |
150 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773915828 CA1006529 |
150 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374661986 CA1006531 |
150 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs267597925 CA28891412 COSM893870 |
152 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs373194330 CA1006527 |
152 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373194330 CA28891403 |
152 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341639417 rs1205225505 |
153 | Q>E | No |
ClinGen TOPMed |
|
|
CA341639407 rs775441583 |
153 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006524 rs756332197 |
158 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs770762076 CA1006522 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28891356 rs567520346 |
160 | N>D | No |
ClinGen Ensembl |
|
|
rs376225653 CA1006520 COSM423458 |
161 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1304699123 CA341639272 |
164 | D>E | No |
ClinGen gnomAD |
|
|
rs758489520 CA1006519 |
164 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341639246 rs1557908482 |
167 | G>R | No |
ClinGen Ensembl |
|
|
rs1557908478 CA341639221 |
168 | N>S | No |
ClinGen Ensembl |
|
|
COSM1198425 rs779438654 CA1006517 |
169 | W>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781528757 CA28891322 |
173 | P>Q | No |
ClinGen TOPMed |
|
|
CA1006516 rs755567208 |
173 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1321345188 CA341639140 |
174 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341639092 rs1388151537 |
177 | K>R | No |
ClinGen TOPMed |
|
|
rs1441239950 CA341639058 |
179 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766824312 CA1006513 |
180 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341639027 rs1483299518 |
181 | K>N | No |
ClinGen gnomAD |
|
|
rs756614102 CA1006512 |
181 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1006511 rs751212229 |
182 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1006510 rs763667741 |
183 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202157291 CA341638978 |
185 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1006507 rs202157291 |
185 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341638981 rs147968487 CA1006508 |
185 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1006509 rs147968487 |
185 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776587023 CA1006505 |
186 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751997684 | 187 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751997684 | 187 | A>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341638952 rs1384351247 |
187 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341638934 rs772217983 |
188 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006499 rs772217983 |
188 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006498 COSM1560097 rs371956554 |
188 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 189 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779118033 CA1006497 |
189 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1163421084 CA341638928 |
189 | E>K | No |
ClinGen gnomAD |
|
|
rs755153278 CA1006496 |
195 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341638832 rs1557908404 |
196 | Q>E | No |
ClinGen Ensembl |
|
|
rs749808777 CA1006495 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341638794 rs1557908395 |
198 | Q>R | No |
ClinGen Ensembl |
|
|
rs562140489 CA1006494 |
199 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341638756 rs1557908385 |
201 | G>D | No |
ClinGen Ensembl |
|
|
CA1006493 rs543906848 |
202 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751736006 CA1006492 |
202 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA28891110 rs112513430 |
203 | R>G | No |
ClinGen gnomAD |
|
|
CA1006490 rs197434 |
204 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1006488 rs764694872 |
205 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341638707 rs764694872 |
205 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341638674 rs1266917083 |
208 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759108603 CA1006487 |
210 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA341638584 rs1338874348 |
214 | F>V | No |
ClinGen TOPMed |
|
|
rs141928251 CA341638534 |
216 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139428718 CA1006484 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1006485 rs141928251 |
216 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1006483 rs772906395 |
217 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1006480 rs199796927 |
219 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761913751 CA1006481 |
219 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768843965 CA1006479 |
222 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373660885 CA1006478 |
222 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1224843408 CA341638399 |
224 | R>Q | No |
ClinGen TOPMed |
|
|
rs780642863 CA1006477 |
224 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770237328 CA341638381 |
226 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209825822 CA341638374 |
226 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190964897 CA341638305 |
231 | G>R | No |
ClinGen gnomAD |
|
|
CA1006474 rs781388407 |
232 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006475 rs746193336 |
232 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA341638269 rs1571589364 |
233 | V>G | No |
ClinGen Ensembl |
|
|
CA1006472 rs199713597 |
233 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1006473 rs199713597 |
233 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1006471 rs199986760 |
235 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1006470 rs754424975 |
236 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1557908273 CA341638225 |
237 | V>I | No |
ClinGen Ensembl |
|
|
CA1006469 rs201410445 |
238 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256065444 COSM1491625 CA341638203 |
239 | E>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341638176 rs201867839 |
240 | S>F | No |
ClinGen gnomAD |
|
|
CA28890985 rs200242479 |
240 | S>T | No |
ClinGen gnomAD |
|
|
rs201867839 CA28890973 |
240 | S>Y | No |
ClinGen gnomAD |
|
|
CA1006467 rs533938052 |
241 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750418454 CA1006466 |
241 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341638157 rs1571589315 |
242 | T>P | No |
ClinGen Ensembl |
|
|
rs149166258 CA1006464 |
243 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774657384 CA1006463 |
244 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006462 rs769005492 |
244 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774657384 CA341638132 |
244 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341638108 rs1423754829 |
245 | S>L | No |
ClinGen gnomAD |
|
|
CA341638103 rs1476864685 |
246 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341638095 rs146284231 |
246 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1006459 rs146284231 |
246 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1274975411 CA341638075 |
248 | V>F | No |
ClinGen TOPMed |
|
|
CA341638070 rs1571589267 |
248 | V>G | No |
ClinGen Ensembl |
|
|
rs781756669 CA1006457 |
251 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746329340 CA341638036 |
251 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1006456 rs201711071 |
252 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341638021 CA1006455 rs747384854 |
252 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs948036512 CA28890911 |
256 | G>D | No |
ClinGen TOPMed |
|
|
CA28890912 rs374920750 |
256 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341637942 rs916564929 |
263 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs916564929 CA28890889 |
263 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1006447 rs185732568 |
266 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371003046 CA1006446 |
267 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1167774937 CA341637907 |
268 | H>Q | No |
ClinGen TOPMed |
|
|
CA1006444 COSM201275 rs560783748 |
270 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1006443 rs763243478 |
270 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341637894 rs1173882817 |
271 | G>W | No |
ClinGen gnomAD |
|
|
CA1006442 rs775894139 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1378278781 CA341637876 |
273 | N>K | No |
ClinGen gnomAD |
|
|
rs1440285665 CA341637864 |
275 | P>L | No |
ClinGen gnomAD |
|
|
CA1006437 rs771470532 |
276 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28890833 rs928346948 |
276 | T>P | No |
ClinGen Ensembl |
|
| rs759002690 | 276 | T>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1006436 rs747331820 |
277 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs965580113 CA28890825 |
278 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1006435 rs773546549 |
278 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006434 rs772468594 |
279 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341637837 rs1291241815 |
280 | K>R | No |
ClinGen TOPMed |
|
|
rs748938881 CA1006432 |
282 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450729925 CA341637819 |
283 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341637811 rs1557908100 |
284 | H>R | No |
ClinGen Ensembl |
|
|
rs1187381057 CA341637802 |
285 | S>L | No |
ClinGen gnomAD |
|
|
rs1312899005 CA341637797 |
286 | P>R | No |
ClinGen gnomAD |
|
|
CA341637800 rs1360420424 |
286 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs112881255 COSM1294726 CA28890773 |
287 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1006430 rs540360673 |
287 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA28890765 rs912269371 |
288 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1006429 rs755521337 |
289 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA341637775 rs1396049532 |
290 | D>G | No |
ClinGen TOPMed |
|
|
rs1396049532 CA341637774 |
290 | D>V | No |
ClinGen TOPMed |
|
|
CA1006428 rs745388675 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180055100 CA341637752 |
293 | T>I | No |
ClinGen gnomAD |
|
|
CA1006426 rs757284319 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758334663 CA1006423 |
295 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1006424 rs376544641 |
295 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341637746 rs376544641 |
295 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9NTI7
1 regional properties for Q9NTI7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FAM212 domain | 120 - 175 | IPR029267 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine/threonine kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTMESREMDC | YLRRLKQELM | SMKEVGDGLQ | DQMNCMMGAL | QELKLLQVQT | ALEQLEISGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPVPGSPEGP | RTQCEHPCWE | GGRGPARPTV | CSPSSQPSLG | SSTKFPSHRS | VCGRDLAPLP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTQPHQSCAQ | QGPERVEPDD | WTSTLMSRGR | NRQPLVLGDN | VFADLVGNWL | DLPELEKGGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KGETGGAREP | KGEKGQPQEL | GRRFALTANI | FKKFLRSVRP | DRDRLLKEKP | GWVTPMVPES |
| 250 | 260 | 270 | 280 | 290 | |
| RTGRSQKVKK | RSLSKGSGHF | PFPGTGEHRR | GENPPTSCPK | ALEHSPSGFD | INTAVWV |