P19634
PR
Gene name |
SLC9A1 (APNH1, NHE1) |
Protein name |
Sodium/hydrogen exchanger 1 |
Names |
APNH, Na(+)/H(+) antiporter, amiloride-sensitive, Na(+)/H(+) exchanger 1, NHE-1, Solute carrier family 9 member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6548 |
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
17 structures for P19634
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Y4E | NMR | - | A | 155-180 | PDB |
| 2BEC | X-ray | 270 A | B | 503-545 | PDB |
| 2E30 | NMR | - | B | 503-545 | PDB |
| 2HTG | NMR | - | A | 250-274 | PDB |
| 2KBV | NMR | - | A | 447-472 | PDB |
| 2L0E | NMR | - | A | 226-250 | PDB |
| 2MDF | NMR | - | A | 226-274 | PDB |
| 2YGG | X-ray | 223 A | A | 622-689 | PDB |
| 6BJF | NMR | - | A | 431-443 | PDB |
| 6NUC | X-ray | 190 A | C | 679-723 | PDB |
| 6NUF | X-ray | 190 A | C | 679-723 | PDB |
| 6NUU | X-ray | 230 A | C | 679-723 | PDB |
| 6ZBI | NMR | - | B/C | 622-657 | PDB |
| 7DSV | EM | 340 A | A/B | 87-558 | PDB |
| 7DSW | EM | 330 A | A/B | 87-506 | PDB |
| 7DSX | EM | 350 A | A/B | 85-593 | PDB |
| AF-P19634-F1 | Predicted | AlphaFoldDB |
518 variants for P19634
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs764274123 RCV000791123 CA711244 |
286 | V>M | Lichtenstein-Knorr syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2083214834 RCV001256015 |
288 | I>missing | Lichtenstein-Knorr syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA199211 rs786204831 RCV000169735 VAR_073439 |
305 | G>R | Lichtenstein-Knorr syndrome LIKNS; causes reduced expression of the mutant protein; hypoglycosylated; does not localize properly at the plasma membrane; small residual activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_082153 | 313 | G>E | LIKNS; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA339185249 rs1553175089 RCV000623112 |
451 | I>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002531884 RCV000624141 CA711047 rs745927136 |
529 | H>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA711415 rs751922100 |
3 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs766845837 CA711414 |
4 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329552189 CA339266663 |
4 | R>W | No |
ClinGen gnomAD |
|
|
rs763539462 CA711413 |
7 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773554049 CA711412 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711411 rs529117655 |
11 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339266567 rs1384775490 |
11 | S>Y | No |
ClinGen TOPMed |
|
|
rs761352342 CA339266560 |
12 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761352342 CA711410 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs143747739 CA19702307 |
13 | H>R | No |
ClinGen ESP |
|
|
CA711409 rs776488068 |
13 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477581307 CA339266531 |
14 | R>Q | No |
ClinGen gnomAD |
|
|
rs755063792 CA19702306 |
18 | S>F | No |
ClinGen TOPMed |
|
|
rs746824143 CA339266447 |
20 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA711407 rs746824143 |
20 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs370929058 CA19702305 |
23 | V>G | No |
ClinGen ESP TOPMed |
|
|
CA339266410 rs1213872298 |
23 | V>I | No |
ClinGen gnomAD |
|
|
CA711404 rs147768334 |
24 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75701054 CA19702304 |
25 | L>F | No |
ClinGen Ensembl |
|
|
rs1218950511 CA339266337 |
27 | G>E | No |
ClinGen gnomAD |
|
|
rs1410572877 CA339266286 |
32 | L>V | No |
ClinGen gnomAD |
|
|
rs1015455504 CA19702303 |
33 | R>G | No |
ClinGen TOPMed |
|
|
rs1161942451 CA339266216 |
37 | L>F | No |
ClinGen TOPMed |
|
|
CA339266180 rs1386040113 |
38 | Q>H | No |
ClinGen TOPMed |
|
|
rs1400870566 CA339266171 |
39 | L>H | No |
ClinGen gnomAD |
|
|
CA711401 rs748221464 |
40 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19702302 rs1024306343 |
40 | S>R | No |
ClinGen TOPMed |
|
|
CA711400 rs781432868 |
42 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339266122 rs1438089033 |
43 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 45 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751683733 CA711398 |
46 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs751683733 CA19702301 |
46 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA339266065 rs1176707587 |
47 | R>Q | No |
ClinGen gnomAD |
|
|
CA19702300 rs889990076 |
48 | S>I | No |
ClinGen gnomAD |
|
|
rs889990076 CA339266049 |
48 | S>N | No |
ClinGen gnomAD |
|
|
CA339266032 rs1426918702 |
49 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339266020 rs1426969024 |
50 | E>Q | No |
ClinGen gnomAD |
|
|
rs1172613506 CA339265994 |
52 | P>S | No |
ClinGen gnomAD |
|
|
rs1422555066 CA339265968 |
54 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs545434461 CA711397 |
54 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339265931 rs1483956066 |
56 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750956342 CA711395 |
57 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711394 rs765829510 |
58 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339265906 rs1260371170 |
58 | G>V | No |
ClinGen gnomAD |
|
|
rs1570893548 CA339265902 |
59 | D>N | No |
ClinGen Ensembl |
|
|
rs761485124 CA711393 |
59 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281277041 CA339265864 |
61 | T>S | No |
ClinGen TOPMed |
|
|
CA339265842 rs1557440481 |
62 | T>S | No |
ClinGen Ensembl |
|
|
CA339265838 rs1276607617 |
63 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1276607617 CA339265840 |
63 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339265826 rs1301396595 |
64 | P>A | No |
ClinGen TOPMed |
|
|
CA339265818 rs1230032661 |
64 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339265787 rs1410616695 |
66 | E>D | No |
ClinGen TOPMed |
|
|
rs1178327869 CA339265782 |
67 | V>I | No |
ClinGen TOPMed |
|
|
CA711390 rs139609468 |
68 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771912100 CA711388 |
69 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339265753 rs1037025332 |
69 | P>L | No |
ClinGen gnomAD |
|
|
CA19702298 rs1037025332 |
69 | P>R | No |
ClinGen gnomAD |
|
|
CA711386 rs774339074 |
72 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774339074 CA711387 |
72 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1399020249 CA339265660 |
75 | N>S | No |
ClinGen gnomAD |
|
|
rs141715004 CA711385 RCV000993964 |
76 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1413920622 CA339265614 |
78 | V>A | No |
ClinGen gnomAD |
|
|
CA711384 rs756225104 |
78 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA19702296 rs756225104 |
78 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339265604 rs1246942740 |
79 | T>I | No |
ClinGen TOPMed |
|
|
rs781272622 CA711383 |
80 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768579781 CA711382 |
81 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs747261069 CA711381 |
81 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199651033 CA339265572 |
82 | G>S | No |
ClinGen gnomAD |
|
|
rs750802570 CA711380 |
84 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs758858110 CA711379 |
85 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711378 rs750752510 |
87 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711377 rs779607727 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763699605 CA711374 |
93 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA339265400 rs1311387973 |
93 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711373 rs536512553 |
97 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA711372 rs536512553 |
97 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA711371 rs759415802 |
98 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs774110345 CA711369 |
98 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA711370 rs759415802 |
98 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296045759 CA339265313 |
98 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1127042 rs770664279 CA711367 |
100 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762910272 CA711366 |
100 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA339265249 rs1406859246 |
102 | P>L | No |
ClinGen TOPMed |
|
|
rs768797791 CA19702294 |
103 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA19702293 rs948523197 |
105 | I>V | No |
ClinGen Ensembl |
|
|
CA339265176 rs1248827955 |
107 | L>P | No |
ClinGen gnomAD |
|
|
CA19702292 rs112352042 |
109 | I>T | No |
ClinGen Ensembl |
|
|
rs746288802 CA19702291 |
113 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs746288802 CA711360 |
113 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1288579482 CA339265001 |
117 | I>L | No |
ClinGen TOPMed |
|
|
rs1288579482 CA339265000 |
117 | I>V | No |
ClinGen TOPMed |
|
|
rs984420775 CA19842427 |
121 | V>M | No |
ClinGen TOPMed |
|
|
rs745493602 CA19842420 |
122 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339191167 rs1445368437 |
123 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA711328 rs761664644 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339191088 rs1202141700 |
127 | S>G | No |
ClinGen gnomAD |
|
|
rs776596154 CA711327 |
127 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs918002819 CA19842414 |
127 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs951678112 CA19842412 |
129 | V>I | No |
ClinGen TOPMed |
|
|
rs1262242033 CA339191021 |
130 | P>L | No |
ClinGen gnomAD |
|
|
CA711324 rs774757087 |
137 | V>M | No |
ClinGen ExAC |
|
| rs1324201794 | 144 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711322 rs749729145 |
144 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1397100905 CA339190744 |
147 | K>E | No |
ClinGen gnomAD |
|
|
CA339190734 rs1428599805 |
148 | G>S | No |
ClinGen TOPMed |
|
|
CA711319 rs748633102 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1170245896 CA339190630 |
154 | P>R | No |
ClinGen gnomAD |
|
|
rs367684852 CA711315 |
159 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA711316 rs538855887 COSM1341471 |
159 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM3741207 rs1315180245 CA339190537 COSM3741206 |
160 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1035247888 CA339190441 |
166 | L>M | No |
ClinGen TOPMed |
|
|
CA339190364 rs1476705903 |
170 | I>M | No |
ClinGen TOPMed |
|
|
rs138831575 CA711311 |
173 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1266667044 CA339190304 |
174 | G>D | No |
ClinGen gnomAD |
|
|
CA339190294 rs1570856423 |
175 | Y>S | No |
ClinGen Ensembl |
|
|
rs1244969084 CA339190270 |
176 | F>L | No |
ClinGen gnomAD |
|
|
rs1570856418 CA339190276 |
176 | F>S | No |
ClinGen Ensembl |
|
|
rs1274527138 CA339190256 |
178 | P>S | No |
ClinGen gnomAD |
|
|
CA19842346 rs770741822 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339190232 COSM1667299 rs1557742300 |
180 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1570856396 CA339190202 |
182 | F>V | No |
ClinGen Ensembl |
|
|
CA339190155 rs1460572190 |
185 | N>Y | No |
ClinGen TOPMed |
|
|
CA711309 rs150458294 |
187 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339190062 rs1378156133 |
191 | I>S | No |
ClinGen gnomAD |
|
|
rs1009181118 CA19842319 |
194 | V>M | No |
ClinGen gnomAD |
|
|
rs1260894544 CA339190003 |
195 | V>E | No |
ClinGen TOPMed |
|
|
CA339189978 rs1205234900 |
197 | T>M | No |
ClinGen TOPMed |
|
|
rs1384461873 CA339189944 |
200 | N>S | No |
ClinGen gnomAD |
|
|
rs996560889 CA19842291 |
201 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA711302 rs770076042 |
206 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA711301 rs762215072 |
207 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1451676838 CA339189860 |
208 | M>L | No |
ClinGen TOPMed |
|
|
rs1006829451 CA19842276 |
208 | M>T | No |
ClinGen Ensembl |
|
|
CA339189839 rs1358117932 |
209 | Y>C | No |
ClinGen gnomAD |
|
|
CA711299 rs758255618 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201506145 CA711297 |
211 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540568862 CA711294 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778829058 CA19842274 |
216 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339189763 rs1363812129 |
217 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339189710 rs1443144056 |
221 | N>D | No |
ClinGen TOPMed |
|
|
rs757045960 CA711293 |
222 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777917202 CA711291 |
223 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1231762391 CA339189638 |
227 | N>S | No |
ClinGen TOPMed |
|
|
rs752615564 CA711289 |
230 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs766596809 CA711288 |
231 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763039501 CA711287 |
232 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs141209350 CA711286 |
233 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339189553 rs1222352923 |
235 | S>L | No |
ClinGen gnomAD |
|
|
rs766672057 COSM1667298 CA711283 |
236 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 236 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711280 rs775931468 |
240 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1570856037 CA339189483 |
242 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 246 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930409092 CA19842225 |
251 | I>V | No |
ClinGen TOPMed |
|
|
CA19842221 rs761129553 |
252 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1372874741 CA339189345 |
253 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339189235 rs1398703157 |
260 | F>S | No |
ClinGen gnomAD |
|
|
rs939253928 CA19842207 |
266 | N>S | No |
ClinGen TOPMed |
|
|
rs1570855965 RCV000993963 CA339189102 |
267 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA19842202 rs1006386569 |
269 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371108256 CA711275 |
271 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406617273 COSM3943843 CA339187830 COSM3943842 |
275 | H>Y | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA19840598 rs973154783 |
276 | L>F | No |
ClinGen Ensembl |
|
|
rs746860748 CA711248 |
283 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs547278268 CA711246 |
284 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 284 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231407349 CA339187696 |
286 | V>E | No |
ClinGen gnomAD |
|
|
rs145043085 CA711243 |
287 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA711241 rs3738690 |
288 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711239 rs774681092 |
289 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765936955 CA711238 |
290 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA339187629 rs1358021001 |
292 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339187620 rs1437940515 |
294 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339187599 rs1446956038 |
297 | S>T | No |
ClinGen Ensembl |
|
|
CA339187591 rs1183347068 |
298 | F>C | No |
ClinGen TOPMed |
|
| rs760438825 | 299 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711234 rs527454172 |
300 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA711232 rs527454172 |
300 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs768266891 CA711230 |
303 | L>V | No |
ClinGen ExAC |
|
|
rs1570851932 CA339187514 |
306 | V>G | No |
ClinGen Ensembl |
|
|
CA339187518 rs1570851938 |
306 | V>L | No |
ClinGen Ensembl |
|
|
rs139348254 CA711228 |
307 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339187503 rs1213573204 |
308 | V>L | No |
ClinGen TOPMed |
|
|
rs1406011039 CA339187495 |
309 | G>S | No |
ClinGen gnomAD |
|
|
CA339187484 rs749369007 CA339187482 |
310 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749369007 CA711226 |
310 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482902869 CA339187471 |
311 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711222 rs781644348 |
315 | I>M | No |
ClinGen ExAC TOPMed |
|
|
COSM1560690 CA711221 rs755250713 |
316 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752156795 CA711220 |
319 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs150618776 CA711219 |
321 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA711218 rs762616924 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764779520 CA711216 |
323 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764779520 CA711217 |
323 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711215 rs201752320 |
326 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339187295 rs1453432733 |
328 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760360731 CA711212 |
330 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA711209 rs745750939 |
334 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1205670511 CA339187202 |
336 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258709393 CA339187119 |
342 | Y>C | No |
ClinGen gnomAD |
|
|
CA339187084 rs1317641614 |
345 | A>V | No |
ClinGen gnomAD |
|
|
CA339187052 rs1570851760 |
349 | H>P | No |
ClinGen Ensembl |
|
|
rs1239062882 CA339187053 |
349 | H>Y | No |
ClinGen TOPMed |
|
|
rs143304397 CA19839423 |
357 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1461881779 CA339186970 |
360 | G>E | No |
ClinGen TOPMed |
|
|
rs1252790214 CA339186951 |
363 | M>T | No |
ClinGen gnomAD |
|
|
CA711167 COSM907821 rs570850908 |
364 | R>C | endometrium Variant assessed as Somatic; 0.0002461 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs775804175 CA711166 |
364 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA339186889 rs1557739397 |
372 | S>C | No |
ClinGen Ensembl |
|
|
CA339186857 rs1570850073 |
377 | T>P | No |
ClinGen Ensembl |
|
|
CA711165 rs772610024 |
378 | T>N | No |
ClinGen ExAC |
|
|
CA339186836 rs1197316075 |
380 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557739376 RCV000761648 |
382 | F>* | No |
ClinVar dbSNP |
|
|
CA19839399 rs926575236 |
385 | M>T | No |
ClinGen Ensembl |
|
|
CA19839398 rs146711009 |
386 | W>* | No |
ClinGen ESP gnomAD |
|
|
rs1222675575 CA339186754 |
387 | S>N | No |
ClinGen gnomAD |
|
|
rs368322522 CA711163 |
389 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351871221 CA339186717 |
390 | S>G | No |
ClinGen gnomAD |
|
|
CA339186598 rs1364813844 |
400 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339186563 rs1301249953 |
402 | T>M | No |
ClinGen gnomAD |
|
|
rs1385375195 COSM394718 CA339186540 |
404 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1570849941 CA339186528 |
405 | G>A | No |
ClinGen Ensembl |
|
|
CA339186524 rs1570849936 |
406 | S>P | No |
ClinGen Ensembl |
|
|
CA339186511 rs1570849933 |
407 | H>P | No |
ClinGen Ensembl |
|
|
rs1431051294 TCGA novel CA339186475 |
409 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs988309984 CA19839373 |
410 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 410 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199438778 CA339186415 |
412 | T>I | No |
ClinGen gnomAD |
|
|
rs1479828985 CA339186410 |
413 | F>L | No |
ClinGen gnomAD |
|
|
rs578200492 CA711157 |
414 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711158 rs578200492 |
414 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754832585 CA711156 |
415 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs866119709 CA19839357 |
416 | S>R | No |
ClinGen Ensembl |
|
|
rs1570849883 CA339186332 |
418 | L>P | No |
ClinGen Ensembl |
|
|
rs1448117862 CA339186318 |
419 | L>P | No |
ClinGen gnomAD |
|
|
CA711155 rs751342551 |
421 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA19839324 rs374641217 |
424 | A>T | No |
ClinGen ESP |
|
|
CA339186221 rs1284168040 |
425 | R>C | No |
ClinGen gnomAD |
|
|
CA339186217 rs1445249407 |
425 | R>H | No |
ClinGen TOPMed |
|
|
CA711153 rs762802516 |
426 | V>M | No |
ClinGen ExAC |
|
|
rs999557464 CA19838333 |
429 | V>M | No |
ClinGen TOPMed |
|
|
rs892309519 CA19838327 |
434 | W>L | No |
ClinGen Ensembl |
|
| TCGA novel | 434 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 434 | W>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711131 rs377536859 |
435 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376312617 CA711130 |
439 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339185386 rs1460141433 |
439 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339185371 rs1205228090 |
440 | R>H | No |
ClinGen gnomAD |
|
|
rs752840548 CA711128 |
441 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765187776 CA711129 |
441 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767640230 CA711126 |
442 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339185301 rs1405327786 |
447 | K>T | No |
ClinGen TOPMed |
|
|
CA711124 rs774669475 |
451 | I>T | No |
ClinGen ExAC |
|
|
CA339185222 rs1376433000 |
453 | A>S | No |
ClinGen gnomAD |
|
|
rs1442236263 CA339185184 |
456 | G>D | No |
ClinGen gnomAD |
|
|
rs1353391048 CA339185169 |
458 | R>* | No |
ClinGen gnomAD |
|
|
rs1557738210 CA339185168 |
458 | R>Q | No |
ClinGen Ensembl |
|
|
rs773660421 CA711121 |
460 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA339185136 rs1386471890 |
462 | A>T | No |
ClinGen gnomAD |
|
|
RCV000190486 CA248455 rs797044991 |
464 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA711115 rs779731142 |
471 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758165525 CA711114 |
473 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339184986 rs1231241969 |
475 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 476 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339184964 rs1189347250 |
477 | C>R | No |
ClinGen TOPMed |
|
|
CA19838239 rs888156266 |
477 | C>Y | No |
ClinGen Ensembl |
|
|
CA339184876 rs1241901474 |
484 | I>V | No |
ClinGen TOPMed |
|
|
CA711110 rs757267819 |
486 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1319726487 CA339184832 |
488 | I>V | No |
ClinGen gnomAD |
|
|
CA711109 rs753791868 |
492 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777917311 CA711071 |
500 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM326500 CA711072 rs749090428 |
500 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs866299852 CA19836384 |
501 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 503 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs902869080 CA19836374 |
514 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 515 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA711069 rs747966843 |
516 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19836367 rs944428744 |
518 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19836356 rs866445773 |
519 | N>S | No |
ClinGen TOPMed |
|
|
CA711067 rs758361622 |
522 | I>L | No |
ClinGen ExAC |
|
| TCGA novel | 525 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347439081 CA339183046 |
526 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339183002 rs1570843352 |
529 | H>P | No |
ClinGen Ensembl |
|
|
rs779161978 CA711046 |
535 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1321263814 CA339182919 |
536 | D>N | No |
ClinGen gnomAD |
|
|
rs557797010 CA19835860 |
544 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158003115 CA339182781 |
544 | H>Y | No |
ClinGen gnomAD |
|
|
rs1430758315 CA339182766 |
545 | H>R | No |
ClinGen gnomAD |
|
|
rs1399016799 CA339182743 |
546 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 546 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339182751 rs1176597793 |
546 | W>R | No |
ClinGen gnomAD |
|
|
CA711043 rs778135703 |
549 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339182620 rs1167038866 |
551 | N>K | No |
ClinGen gnomAD |
|
|
rs1370493958 CA339182626 |
551 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764788371 CA19835680 |
552 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764788371 COSM907819 CA711014 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA339182617 rs1446846591 |
552 | R>W | No |
ClinGen gnomAD |
|
|
CA339182485 rs1181465550 |
558 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA339182463 rs1450046885 |
559 | K>E | No |
ClinGen gnomAD |
|
|
CA339182441 rs1471960125 |
559 | K>N | No |
ClinGen gnomAD |
|
|
rs1234659536 CA339182388 |
561 | C>R | No |
ClinGen gnomAD |
|
|
CA339182307 rs1557736639 |
564 | A>V | No |
ClinGen Ensembl |
|
|
CA711012 rs776300965 |
566 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339182241 rs1373831024 |
567 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA19835637 rs908760655 |
567 | R>H | No |
ClinGen Ensembl |
|
|
CA711011 rs763879818 |
568 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310137830 CA339182214 |
569 | K>R | No |
ClinGen gnomAD |
|
|
rs992546833 CA19835625 |
571 | P>H | No |
ClinGen TOPMed |
|
|
rs1361296579 CA339182131 |
573 | L>F | No |
ClinGen gnomAD |
|
|
rs959976815 CA19835616 |
575 | A>D | No |
ClinGen TOPMed |
|
|
CA339181821 rs373894487 |
586 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749370600 CA711007 |
587 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA339181817 rs1376604704 |
587 | E>K | No |
ClinGen gnomAD |
|
|
rs1376604704 CA339181815 |
587 | E>Q | No |
ClinGen gnomAD |
|
|
CA711002 rs376562018 |
592 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747566604 CA711001 |
593 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA711000 rs780675635 |
594 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339181702 rs1403806468 |
594 | M>V | No |
ClinGen gnomAD |
|
|
CA710999 rs369974421 |
596 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958811492 CA19835521 |
599 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 600 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA710997 rs533116161 |
601 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749820620 RCV000958471 |
603 | T>missing | No |
ClinVar dbSNP |
|
|
rs1557736555 CA339181498 |
603 | T>I | No |
ClinGen Ensembl |
|
|
rs756862044 CA710996 |
604 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA339181394 rs1448771346 |
607 | Q>K | No |
ClinGen TOPMed |
|
|
CA339181292 rs1557736355 |
608 | N>S | No |
ClinGen Ensembl |
|
|
CA339181259 rs1570842591 |
610 | H>P | No |
ClinGen Ensembl |
|
|
CA339181250 rs1392044134 |
610 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1179288894 CA339181237 |
611 | P>R | No |
ClinGen TOPMed |
|
|
CA339181207 rs1466636626 |
613 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339181184 rs1378095739 |
615 | P>L | No |
ClinGen gnomAD |
|
|
rs374974858 CA710967 |
617 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143944969 CA710968 |
617 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM907817 rs1189050207 CA339181148 |
618 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA710966 rs554952402 |
618 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554952402 CA710965 |
618 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1225530622 CA339181086 |
622 | A>V | No |
ClinGen Ensembl |
|
|
rs1201620440 CA339181082 |
623 | L>V | No |
ClinGen gnomAD |
|
|
rs963388045 CA19834981 |
624 | S>T | No |
ClinGen Ensembl |
|
|
CA339181040 rs1254940454 |
626 | D>N | No |
ClinGen gnomAD |
|
|
rs1309855858 CA339180927 |
632 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746382284 CA710962 |
632 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA19834907 rs747570122 |
633 | K>R | No |
ClinGen gnomAD |
|
|
CA339180860 rs1317471870 |
636 | R>K | No |
ClinGen gnomAD |
|
|
CA710960 rs768169083 |
637 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs778647748 CA19834888 |
637 | N>S | No |
ClinGen Ensembl |
|
|
rs371824501 CA710958 |
641 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372334566 CA339180750 |
642 | T>S | No |
ClinGen gnomAD |
|
|
rs1448662497 CA339180720 |
644 | Q>R | No |
ClinGen gnomAD |
|
| rs368461104 | 645 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780988172 CA339180713 |
645 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs780988172 CA710955 |
645 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752306761 COSM1667297 CA710956 |
645 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA339180579 rs1471857518 |
647 | R>Q | No |
ClinGen gnomAD |
|
|
rs774782841 CA710927 |
647 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA339180567 rs1199965335 |
648 | S>Y | No |
ClinGen gnomAD |
|
|
rs1451421765 CA339180531 |
650 | N>D | No |
ClinGen gnomAD |
|
|
CA710926 rs564742651 |
650 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA710925 rs763541459 |
653 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1256224384 CA339180399 |
658 | P>A | No |
ClinGen TOPMed |
|
|
CA339180396 rs1348399213 |
658 | P>H | No |
ClinGen gnomAD |
|
|
rs1256224384 CA339180398 |
658 | P>S | No |
ClinGen TOPMed |
|
|
CA19834573 rs201971374 |
660 | E>K | No |
ClinGen Ensembl |
|
|
rs1233932355 CA339180304 |
662 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339180313 rs1233932355 |
662 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA710918 rs779929752 |
663 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA339180215 rs1319233467 |
665 | Q>H | No |
ClinGen gnomAD |
|
|
rs1388923437 CA339180223 |
665 | Q>R | No |
ClinGen gnomAD |
|
|
CA339180137 rs1173635739 |
669 | R>Q | No |
ClinGen gnomAD |
|
|
rs137936112 CA19834524 |
669 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 671 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260281515 CA339180099 |
671 | Q>E | No |
ClinGen TOPMed |
|
|
CA339180042 rs1334183242 |
673 | A>S | No |
ClinGen TOPMed |
|
|
CA710915 rs778991502 |
673 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339180024 rs756321872 |
674 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199671353 CA710913 |
674 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA710914 rs756321872 |
674 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19833886 VAR_050231 rs35703140 |
682 | N>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA710893 rs754995174 |
682 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA339179644 rs1439246779 |
683 | Y>H | No |
ClinGen gnomAD |
|
|
rs1570841414 CA339179634 |
683 | Y>S | No |
ClinGen Ensembl |
|
|
rs140853773 CA710890 COSM907816 |
685 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339179581 rs1570841388 |
687 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 687 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19833870 rs1047569723 |
688 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339179568 rs1424341093 |
688 | A>V | No |
ClinGen TOPMed |
|
|
rs750796635 CA339179492 |
690 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483373025 CA339179489 |
691 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762334530 CA710886 |
696 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs201372679 CA339179342 |
696 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201372679 CA710887 RCV000888215 |
696 | M>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs754250304 CA19833799 |
698 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA710885 rs754250304 |
698 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1323099528 CA339179301 |
698 | R>W | No |
ClinGen gnomAD |
|
|
CA339179285 rs1332012561 |
699 | A>S | No |
ClinGen gnomAD |
|
|
rs760070811 CA710883 |
700 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771637718 CA710881 |
700 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA710882 rs771637718 |
700 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339179242 rs547605711 |
701 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201478450 CA710879 COSM184337 |
702 | G>S | large_intestine Variant assessed as Somatic; 5.314e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA19833755 rs377299051 |
703 | S>P | No |
ClinGen ESP TOPMed |
|
|
rs1570840816 CA339178148 |
704 | D>A | No |
ClinGen Ensembl |
|
|
CA339178140 rs1321233515 |
705 | P>T | No |
ClinGen gnomAD |
|
|
CA339178121 rs1456809278 |
706 | L>Q | No |
ClinGen gnomAD |
|
|
CA710860 RCV000993962 rs142887458 |
710 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1570840783 CA339178005 |
711 | K>R | No |
ClinGen Ensembl |
|
|
rs1570840775 CA339177982 |
712 | E>G | No |
ClinGen Ensembl |
|
|
CA339177946 rs1570840758 |
713 | D>A | No |
ClinGen Ensembl |
|
|
CA339177961 rs1238480764 |
713 | D>H | No |
ClinGen TOPMed |
|
|
rs1238480764 CA339177958 |
713 | D>N | No |
ClinGen TOPMed |
|
|
rs769630690 CA710857 |
717 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339177901 rs1452125237 |
718 | T>A | No |
ClinGen gnomAD |
|
|
CA339177847 rs1570840726 |
720 | D>A | No |
ClinGen Ensembl |
|
|
CA710854 rs772086866 |
720 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA19833171 rs775458580 |
720 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA710855 rs775458580 |
720 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745617798 CA710853 |
721 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310941345 CA339177832 |
721 | P>S | No |
ClinGen TOPMed |
|
|
CA710851 rs757684057 |
722 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs758416733 CA710848 |
724 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA710849 rs778134656 |
724 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339177732 rs1157791560 |
725 | Q>R | No |
ClinGen TOPMed |
|
|
rs754510627 CA710845 |
728 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754510627 CA339177682 |
728 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751326068 CA339177653 |
729 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339177659 rs1344694106 |
729 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs751326068 CA710844 |
729 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339177521 rs1477824500 |
734 | N>K | No |
ClinGen TOPMed |
|
|
CA339177488 rs4418629 CA339177506 |
735 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1359689057 CA339177477 |
736 | E>D | No |
ClinGen gnomAD |
|
|
CA339177486 rs1467464069 |
736 | E>K | No |
ClinGen gnomAD |
|
|
rs560166921 CA710841 |
739 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs912014390 CA19833086 |
740 | K>Q | No |
ClinGen Ensembl |
|
|
CA339177407 rs1391822709 |
740 | K>R | No |
ClinGen gnomAD |
|
|
CA339177379 rs1188776262 |
741 | V>A | No |
ClinGen gnomAD |
|
|
rs369393494 CA710840 |
746 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141694580 CA710838 |
746 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA710839 rs369393494 |
746 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA710837 rs772178959 |
747 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223990238 CA339177201 |
750 | K>T | No |
ClinGen TOPMed |
|
|
rs972098739 CA19833060 |
754 | E>V | No |
ClinGen Ensembl |
|
|
rs749487937 CA710833 |
755 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs778021539 CA339177075 |
756 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778021539 CA710832 |
756 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339177077 rs778021539 |
756 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA710831 rs748647066 |
757 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA710829 rs138525900 |
758 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM534525 rs140504210 CA710827 |
759 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 761 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA710826 rs765917102 |
763 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339176927 rs1372159203 |
763 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339176938 rs1412907571 |
763 | M>V | No |
ClinGen gnomAD |
|
|
CA710825 rs758016239 |
764 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA339176908 rs1423375458 |
764 | M>L | No |
ClinGen TOPMed |
|
|
CA710823 rs764986883 |
765 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750040030 CA710824 |
765 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339176859 rs1423030845 |
767 | K>Q | No |
ClinGen TOPMed |
|
|
rs761637345 CA710822 |
767 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339176814 rs1570840427 |
769 | T>P | No |
ClinGen Ensembl |
|
|
CA710821 rs372651626 |
770 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202239066 CA710819 |
771 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770127268 CA19832898 |
775 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773456313 CA710815 |
775 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773456313 CA710816 |
775 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748512809 CA710813 |
776 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769287683 CA710811 |
777 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216716108 CA339176647 |
779 | T>N | No |
ClinGen TOPMed |
|
|
CA19832895 rs1003344937 |
779 | T>P | No |
ClinGen TOPMed |
|
|
CA710810 rs747476550 |
780 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339176635 rs1342347127 |
780 | P>H | No |
ClinGen TOPMed |
|
|
CA19832884 rs556347900 |
781 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 781 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200843173 COSM1341466 CA710807 |
781 | A>T | large_intestine Variant assessed as Somatic; 0.0008014 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs556347900 COSM459368 CA710806 |
781 | A>V | cervix Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA710804 rs753642257 |
782 | P>A | No |
ClinGen ExAC |
|
|
rs570559546 CA19832843 |
783 | S>N | No |
ClinGen 1000Genomes |
|
|
CA710802 rs760629405 |
786 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763838164 CA710803 |
786 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339176493 rs1557735199 |
790 | R>K | No |
ClinGen Ensembl |
|
|
rs140754742 CA339176481 |
791 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA710800 rs140754742 |
791 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA710799 rs763088415 |
792 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA339176427 rs1181817557 |
793 | R>C | No |
ClinGen TOPMed |
|
|
rs534231113 CA710798 |
793 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770070615 CA710797 |
794 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1468255602 CA339176386 |
796 | S>G | No |
ClinGen gnomAD |
|
|
rs762063594 CA710796 |
796 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1239594053 CA339176342 |
798 | P>R | No |
ClinGen TOPMed |
|
|
rs1012311537 CA19832808 |
799 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1012311537 CA339176317 |
799 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201599200 CA19832800 |
802 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA710793 rs201599200 |
802 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA19832771 rs752973182 |
804 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA19832765 rs1053750213 |
805 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 806 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339176119 rs1227685943 |
808 | E>Q | No |
ClinGen TOPMed |
|
|
CA710791 rs144794319 |
809 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA710789 rs778226166 |
812 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756907314 CA710788 |
813 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753441418 CA710787 |
814 | G>R | No |
ClinGen ExAC |
|
|
CA339175982 rs1329358476 |
815 | Q>R | No |
ClinGen TOPMed |
|
|
CA710786 rs777595112 |
816 | Q>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with P19634
[MIM: 616291]: Lichtenstein-Knorr syndrome (LIKNS)
An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. {ECO:0000269|PubMed:25205112, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. {ECO:0000269|PubMed:25205112, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cation-transporting ATPase complex | Protein complex that carries out the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in). |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| ion binding | Binding to an ion, a charged atoms or groups of atoms. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| potassium:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(in) + H+(out) = K+(out) + H+(in). |
| protein phosphatase 2B binding | Binding to a protein phosphatase 2B. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| sodium:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out). |
| sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential | Enables the transfer of a solute or solutes from one side of a cardiac muscle cell membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out). This transfer contributes to the regulation of the cardiac muscle cell plasma membrane potential. |
| solute:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(in) = solute(in) + H+(out). |
41 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle cell contraction | The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of a cardiac muscle cell. |
| cardiac muscle cell differentiation | The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cellular response to acidic pH | 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 pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution. |
| cellular response to antibiotic | 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 an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms. |
| cellular response to cold | 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 cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
| cellular response to electrical stimulus | 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 an electrical stimulus. |
| cellular response to epinephrine stimulus | 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 an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system. |
| cellular response to hypoxia | 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to insulin stimulus | 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| cellular response to mechanical stimulus | 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 mechanical stimulus. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| maintenance of cell polarity | The maintenance of established anisotropic intracellular organization or cell growth patterns. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| neuron death | The process of cell death in a neuron. |
| positive regulation of action potential | Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of calcineurin-NFAT signaling cascade | Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade. |
| positive regulation of calcium:sodium antiporter activity | Any process that activates or increases the frequency, rate or extent of calcium:sodium antiporter activity. |
| positive regulation of cardiac muscle hypertrophy | Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of mitochondrial membrane permeability | Any process that increases the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
| positive regulation of the force of heart contraction | Any process that increases the force of heart muscle contraction. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of cardiac muscle cell membrane potential | Any process that modulates the establishment or extent of a membrane potential in a cardiac muscle cell (a cardiomyocyte). A membrane potential is the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of cardiac muscle contraction by calcium ion signaling | Any process that modulates the frequency, rate or extent of cardiac muscle contraction by changing the calcium ion signals that trigger contraction. |
| regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| regulation of pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. |
| regulation of sensory perception of pain | Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. |
| regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| regulation of the force of heart contraction by cardiac conduction | A cardiac conduction process that modulates the extent of heart contraction, changing the force with which blood is propelled. |
| response to acidic pH | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution. |
| response to muscle stretch | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length. |
| sodium ion export across plasma membrane | The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28036 | SLC9A1 | Sodium/hydrogen exchanger 1 | Bos taurus (Bovine) | PR |
| Q14940 | SLC9A5 | Sodium/hydrogen exchanger 5 | Homo sapiens (Human) | PR |
| Q9UBY0 | SLC9A2 | Sodium/hydrogen exchanger 2 | Homo sapiens (Human) | PR |
| Q4G0N8 | SLC9C1 | Sodium/hydrogen exchanger 10 | Homo sapiens (Human) | PR |
| Q8BUE1 | Slc9a4 | Sodium/hydrogen exchanger 4 | Mus musculus (Mouse) | PR |
| Q61165 | Slc9a1 | Sodium/hydrogen exchanger 1 | Mus musculus (Mouse) | PR |
| P48762 | SLC9A1 | Sodium/hydrogen exchanger 1 | Sus scrofa (Pig) | PR |
| P26434 | Slc9a4 | Sodium/hydrogen exchanger 4 | Rattus norvegicus (Rat) | PR |
| P48763 | Slc9a2 | Sodium/hydrogen exchanger 2 | Rattus norvegicus (Rat) | PR |
| P26431 | Slc9a1 | Sodium/hydrogen exchanger 1 | Rattus norvegicus (Rat) | PR |
| Q8T5S1 | nhx-2 | Na(+)/H(+) exchanger protein 2 | Caenorhabditis elegans | PR |
| Q8S397 | NHX4 | Sodium/hydrogen exchanger 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q84WG1 | NHX3 | Sodium/hydrogen exchanger 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLRSGICGL | SPHRIFPSLL | VVVALVGLLP | VLRSHGLQLS | PTASTIRSSE | PPRERSIGDV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TTAPPEVTPE | SRPVNHSVTD | HGMKPRKAFP | VLGIDYTHVR | TPFEISLWIL | LACLMKIGFH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIPTISSIVP | ESCLLIVVGL | LVGGLIKGVG | ETPPFLQSDV | FFLFLLPPII | LDAGYFLPLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QFTENLGTIL | IFAVVGTLWN | AFFLGGLMYA | VCLVGGEQIN | NIGLLDNLLF | GSIISAVDPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVLAVFEEIH | INELLHILVF | GESLLNDAVT | VVLYHLFEEF | ANYEHVGIVD | IFLGFLSFFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VALGGVLVGV | VYGVIAAFTS | RFTSHIRVIE | PLFVFLYSYM | AYLSAELFHL | SGIMALIASG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVMRPYVEAN | ISHKSHTTIK | YFLKMWSSVS | ETLIFIFLGV | STVAGSHHWN | WTFVISTLLF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CLIARVLGVL | GLTWFINKFR | IVKLTPKDQF | IIAYGGLRGA | IAFSLGYLLD | KKHFPMCDLF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTAIITVIFF | TVFVQGMTIR | PLVDLLAVKK | KQETKRSINE | EIHTQFLDHL | LTGIEDICGH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YGHHHWKDKL | NRFNKKYVKK | CLIAGERSKE | PQLIAFYHKM | EMKQAIELVE | SGGMGKIPSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSTVSMQNIH | PKSLPSERIL | PALSKDKEEE | IRKILRNNLQ | KTRQRLRSYN | RHTLVADPYE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAWNQMLLRR | QKARQLEQKI | NNYLTVPAHK | LDSPTMSRAR | IGSDPLAYEP | KEDLPVITID |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PASPQSPESV | DLVNEELKGK | VLGLSRDPAK | VAEEDEDDDG | GIMMRSKETS | SPGTDDVFTP |
| 790 | 800 | 810 | |||
| APSDSPSSQR | IQRCLSDPGP | HPEPGEGEPF | FPKGQ |