P51170
PR
Gene name |
SCNN1G |
Protein name |
Amiloride-sensitive sodium channel subunit gamma |
Names |
Epithelial Na(+) channel subunit gamma, ENaCG, Gamma-ENaC, Gamma-NaCH, Nonvoltage-gated sodium channel 1 subunit gamma, SCNEG |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6340 |
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
3 structures for P51170
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6BQN | EM | 390 A | C | 78-524 | PDB |
| 6WTH | EM | 306 A | C | 1-649 | PDB |
| AF-P51170-F1 | Predicted | AlphaFoldDB |
531 variants for P51170
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000991457 rs1596760831 |
48 | R>missing | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000407524 rs754747376 CA7959577 RCV000335799 |
149 | G>A | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000362908 CA7959591 rs546893551 RCV000326894 RCV002480141 RCV002522827 |
180 | R>Q | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000361738 RCV000266905 CA7959590 RCV002508210 rs763601481 |
180 | R>W | Variant assessed as Somatic; 0.0 impact. Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000009376 RCV000609005 VAR_014894 RCV000328044 rs5736 RCV000272918 CA119952 RCV000224250 |
183 | G>S | Bronchiectasis with or without elevated sweat chloride 3 Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 3 (besc3) a patient with bronchiectasis [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1001641230 CA279444785 RCV000989544 |
192 | N>K | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002490346 RCV000713392 VAR_034485 RCV000388570 RCV000009377 rs5738 RCV000334111 RCV000250994 CA119954 |
197 | E>K | Bronchiectasis with or without elevated sweat chloride 3 Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 3 (besc3) a patient with bronchiectasis [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs5738 RCV001116638 RCV001116637 |
197 | E>Q | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713394 CA7959649 rs72646501 RCV000399950 RCV000341227 |
259 | T>N | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001118082 CA7959722 RCV001118083 rs147199706 |
314 | E>K | Variant assessed as Somatic; 0.0 impact. Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202142122 RCV000274328 RCV000366583 RCV002495002 RCV001329526 CA7959806 |
396 | H>R | Bronchiectasis with or without elevated sweat chloride 3 Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886051801 RCV000331483 CA10647174 RCV000369883 |
460 | K>E | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000519048 RCV000764039 CA7959909 rs144653364 |
517 | M>T | Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000379928 RCV000287850 rs148985177 RCV002522828 RCV001200889 CA7959943 |
530 | N>S | Bronchiectasis with or without elevated sweat chloride 3 Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 3 (besc3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002310626 rs1596779433 |
543 | V>missing | Pseudohypoaldosteronism, type IB3, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853342 CA119950 RCV000009372 |
573 | W>* | Liddle syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081180 | 573 | W>del | LIDLS2; increased sodium channel activity [UniProt] | Yes | UniProt |
|
RCV001116747 rs1960141342 RCV001116746 |
575 | W>S | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000684754 rs1567270184 |
583 | E>missing | Liddle syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7959981 RCV002522829 RCV000398385 CA395103840 RCV000345193 rs745715995 |
609 | L>F | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001116748 rs1474666302 RCV001118191 CA395103887 |
614 | A>V | Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002556514 CA7959988 RCV001118192 rs139012605 RCV001118193 |
621 | G>S | Variant assessed as Somatic; 0.0 impact. Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA395092302 rs1448022141 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA395092309 rs1159522536 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA395092314 rs1410534453 |
4 | G>R | No |
ClinGen gnomAD |
|
|
CA395092342 rs1289797173 |
6 | K>T | No |
ClinGen TOPMed |
|
|
CA395092417 rs1303134325 |
12 | K>E | No |
ClinGen gnomAD |
|
|
rs1567261510 CA395092423 |
12 | K>R | No |
ClinGen Ensembl |
|
|
CA395092450 rs1406915921 |
14 | N>T | No |
ClinGen gnomAD |
|
|
rs779071150 CA7959471 |
16 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395092511 rs1239955249 |
20 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279440791 rs955520279 |
22 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs368523916 CA7959476 |
23 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA7959475 rs376778818 |
23 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7959482 rs769294418 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772662441 CA7959483 |
26 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA279440880 rs931451621 |
29 | M>K | No |
ClinGen Ensembl |
|
|
rs1326886023 CA395092602 |
29 | M>V | No |
ClinGen TOPMed |
|
|
rs373976756 CA7959484 |
30 | R>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA395092618 rs1422719713 |
31 | W>L | No |
ClinGen TOPMed |
|
|
rs770462575 CA7959485 |
33 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395092647 rs1164327423 |
34 | L>F | No |
ClinGen TOPMed |
|
|
rs774272443 CA7959486 |
34 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA395092689 rs1596760801 |
38 | T>P | No |
ClinGen Ensembl |
|
|
rs1596760807 CA395092736 |
41 | C>W | No |
ClinGen Ensembl |
|
|
CA395092741 rs1166239015 |
42 | R>C | No |
ClinGen gnomAD |
|
|
rs1392208138 CA395092775 |
45 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392208138 CA395092771 |
45 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395092789 rs1596760828 |
46 | V>G | No |
ClinGen Ensembl |
|
|
rs765428817 CA7959491 |
46 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs750505986 CA7959492 |
48 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA279441012 rs5733 VAR_014893 |
49 | G>C | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs949408865 CA279441027 |
49 | G>D | No |
ClinGen Ensembl |
|
|
CA395092816 rs5733 |
49 | G>S | No |
ClinGen gnomAD |
|
|
CA7959494 COSM265503 rs780133768 |
50 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs902638150 CA279441055 |
50 | R>H | No |
ClinGen Ensembl |
|
|
rs886041786 RCV000271903 |
51 | L>missing | No |
ClinVar dbSNP |
|
|
CA395092844 rs1339415321 |
52 | R>C | No |
ClinGen gnomAD |
|
|
rs1158703604 CA395092857 COSM270113 |
53 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA395092864 rs1276151715 |
54 | L>I | No |
ClinGen gnomAD |
|
|
CA395092875 rs144697586 |
55 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7959496 rs144697586 |
55 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1036414531 CA279441079 |
56 | W>S | No |
ClinGen TOPMed |
|
|
rs748478888 CA279441080 |
58 | G>A | No |
ClinGen gnomAD |
|
|
CA395092906 VAR_036483 COSM33382 rs1183385193 |
58 | G>R | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
| TCGA novel | 60 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748681725 CA7959498 |
64 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs148502526 CA279441087 |
66 | L>F | No |
ClinGen ESP gnomAD |
|
|
CA7959500 rs370934643 |
67 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279441100 rs370934643 |
67 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395093024 rs1404254728 |
69 | W>C | No |
ClinGen gnomAD |
|
|
rs1216033654 CA395093042 |
71 | C>G | No |
ClinGen TOPMed |
|
|
CA7959503 rs773889282 |
72 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770679335 CA7959502 |
72 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959504 rs745459023 |
74 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395093144 rs1014035286 |
81 | V>F | No |
ClinGen TOPMed |
|
|
rs1014035286 CA279441235 |
81 | V>I | No |
ClinGen TOPMed |
|
|
CA395093155 rs1405904216 |
83 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 84 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766420204 CA395093217 |
88 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959511 rs766420204 |
88 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959513 rs755184392 |
89 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429611932 CA395093244 |
90 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959514 rs767921946 |
94 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs868159207 CA279441274 |
95 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7959517 rs376267569 |
99 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7959519 rs756725054 |
101 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778449018 CA7959520 |
103 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745530837 CA7959521 |
104 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395093772 rs1596762895 |
107 | Y>D | No |
ClinGen Ensembl |
|
|
CA395093791 rs1384592582 |
108 | S>R | No |
ClinGen gnomAD |
|
|
rs775694446 CA395093801 |
109 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775694446 CA7959551 |
109 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959554 rs147276737 |
110 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM968726 rs1441053096 CA395093815 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs371061652 CA7959555 |
111 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395093818 rs371061652 |
111 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371061652 CA279444434 |
111 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395093813 rs1441053096 |
111 | R>S | No |
ClinGen gnomAD |
|
|
CA395093822 rs148236872 |
112 | H>N | No |
ClinGen gnomAD |
|
|
COSM108109 rs148236872 CA279444441 |
112 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs997832595 CA279444446 |
115 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866663093 CA279444449 |
117 | L>F | No |
ClinGen Ensembl |
|
|
rs779636128 TCGA novel CA7959559 |
120 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA7959558 rs757995516 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537827712 CA7959561 |
124 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1596762945 CA395094010 |
128 | L>P | No |
ClinGen Ensembl |
|
|
rs557776031 CA7959563 |
129 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372056840 CA395094045 |
130 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372056840 CA395094043 |
130 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372056840 CA7959564 |
130 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395094080 rs1187366761 |
132 | P>R | No |
ClinGen TOPMed |
|
|
CA7959566 rs148776783 |
134 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775500246 CA7959567 |
135 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA395094121 rs775500246 |
135 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395094117 rs1170526876 |
135 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs760937894 CA7959568 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395094147 rs1335182657 |
137 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3402185 rs752038199 CA7959569 |
137 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA279444548 rs866495683 |
138 | R>* | No |
ClinGen gnomAD |
|
|
COSM1478663 CA279444554 rs267604464 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA279444571 rs370762301 |
140 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7959570 rs370762301 |
140 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374639099 CA7959572 |
142 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7959573 rs750969453 |
143 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA7959574 rs763510122 |
144 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs528336880 CA395094326 |
146 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7959576 rs528336880 |
146 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs993236769 CA279444598 |
150 | K>E | No |
ClinGen Ensembl |
|
|
CA7959578 rs780887275 |
150 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA279444602 rs367966221 |
152 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA395094485 rs1186597571 |
153 | R>* | No |
ClinGen gnomAD |
|
|
rs1425102710 CA395094487 |
153 | R>K | No |
ClinGen gnomAD |
|
|
rs1425102710 CA395094491 |
153 | R>T | No |
ClinGen gnomAD |
|
|
CA279444610 rs913351146 COSM1224949 |
154 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA395094528 rs1464099289 |
155 | S>F | No |
ClinGen TOPMed |
|
|
CA7959580 rs561754036 |
157 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181420353 CA7959581 |
157 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs561754036 CA7959579 |
157 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757165262 CA7959582 |
159 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395094618 rs1238075168 |
162 | I>M | No |
ClinGen TOPMed |
|
|
rs747084764 CA7959584 |
164 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959585 rs768816963 |
165 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA395094659 rs1596763096 |
165 | Q>L | No |
ClinGen Ensembl |
|
|
rs1273569215 CA395094670 |
166 | D>N | No |
ClinGen gnomAD |
|
|
CA7959586 rs776924431 |
166 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282924694 CA395094720 |
169 | G>D | No |
ClinGen gnomAD |
|
|
CA7959587 rs148827401 |
169 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306876379 CA395094739 |
171 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs879582601 CA279444661 |
172 | R>W | No |
ClinGen Ensembl |
|
|
CA7959588 rs770221621 |
177 | G>E | No |
ClinGen ExAC gnomAD |
|
| VAR_015842 | 178 | R>W | No | UniProt | |
|
CA7959589 rs773659527 |
179 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1596763154 CA395094830 |
182 | V>F | No |
ClinGen Ensembl |
|
|
CA7959595 rs755673994 |
183 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959596 rs577356450 |
184 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959597 rs569006664 |
184 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395094843 rs1400657814 |
185 | S>G | No |
ClinGen gnomAD |
|
|
CA279444759 rs13306664 |
186 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs13306664 CA7959598 |
186 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7959599 rs899371749 |
188 | H>Q | Bronchiectasis with or without elevated sweat chloride 3 (besc3) [Ensembl] | No |
ClinGen TOPMed |
|
CA7959601 rs745746714 |
190 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs745746714 CA7959602 |
190 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395094877 rs745746714 |
190 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs267604466 CA279444778 |
190 | A>V | No |
ClinGen Ensembl |
|
|
rs1403254726 CA395094949 |
196 | I>F | No |
ClinGen gnomAD |
|
|
rs372209300 CA395094959 |
196 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769882629 CA7959605 |
202 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279444812 rs866913229 |
203 | G>E | No |
ClinGen Ensembl |
|
|
CA7959606 rs773749575 |
206 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1269203128 CA395095252 |
207 | C>R | No |
ClinGen TOPMed |
|
|
rs1443351431 CA395095255 |
207 | C>S | No |
ClinGen gnomAD |
|
|
CA7959628 rs746440656 |
208 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA395095259 rs1204147416 |
208 | S>T | No |
ClinGen TOPMed |
|
|
CA395095265 rs772430365 |
209 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7959629 rs772430365 |
209 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1473856705 CA395095284 |
211 | T>I | No |
ClinGen gnomAD |
|
|
CA7959630 rs141591871 |
213 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395095295 rs1466281176 |
213 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1289382680 CA395095301 |
214 | C>Y | No |
ClinGen gnomAD |
|
|
CA7959632 rs370068621 |
215 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7959631 rs768093976 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA279446850 rs903167892 |
216 | T>I | No |
ClinGen TOPMed |
|
|
rs533858031 CA7959636 |
221 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7959637 rs533858031 |
221 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751457907 CA7959638 COSM1708946 |
222 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1567263644 CA395095403 |
224 | N>S | No |
ClinGen Ensembl |
|
|
rs998972107 CA279446920 |
225 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs199888130 CA7959639 |
226 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199888130 CA279446927 |
226 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260841011 CA395095447 |
228 | E>G | No |
ClinGen gnomAD |
|
|
CA7959641 rs754136235 COSM1265073 |
229 | W>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA279446959 rs377187033 |
230 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA279446960 rs893309318 |
231 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs192839222 CA7959644 |
233 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772696406 CA7959645 |
234 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | Y>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372531515 CA395095546 |
236 | N>T | No |
ClinGen gnomAD |
|
|
CA395095575 rs1478282025 |
238 | M>T | No |
ClinGen gnomAD |
|
|
CA395095601 rs1173152145 |
239 | A>E | No |
ClinGen gnomAD |
|
|
CA395095588 rs1253720357 |
239 | A>T | No |
ClinGen TOPMed |
|
|
rs1173152145 CA395095596 |
239 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1387447110 CA395095609 |
240 | Q>R | No |
ClinGen gnomAD |
|
|
rs1567263665 CA395095645 |
244 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 245 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395095725 rs199757401 CA7959648 |
249 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747479323 CA7959647 |
249 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1482885573 CA395095756 |
253 | A>S | No |
ClinGen TOPMed |
|
|
rs1380389604 CA395095777 |
256 | L>V | No |
ClinGen gnomAD |
|
|
CA395095786 rs1317048237 |
258 | V>M | No |
ClinGen gnomAD |
|
|
rs1219903858 CA395095799 |
260 | C>G | No |
ClinGen gnomAD |
|
|
rs1281058301 CA395095800 |
260 | C>Y | No |
ClinGen gnomAD |
|
|
rs890103518 CA279447059 |
261 | F>V | No |
ClinGen Ensembl |
|
|
rs1322388304 CA395095828 |
263 | D>Y | No |
ClinGen gnomAD |
|
|
CA395095855 rs1233006051 |
265 | V>A | No |
ClinGen gnomAD |
|
|
rs1212315369 CA395095865 |
266 | S>F | No |
ClinGen TOPMed |
|
|
rs1256892120 CA395095873 |
267 | C>Y | No |
ClinGen gnomAD |
|
|
rs761502095 CA7959650 |
269 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA279447069 rs868818469 |
270 | R>M | No |
ClinGen Ensembl |
|
|
CA7959673 rs748932287 |
273 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279448181 rs946968996 |
274 | L>R | No |
ClinGen Ensembl |
|
|
rs954121504 CA395096191 |
276 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA279448185 rs182222186 |
276 | H>R | No |
ClinGen 1000Genomes |
|
|
CA395096202 rs1269700079 |
278 | P>A | No |
ClinGen gnomAD |
|
|
rs774174564 CA395096204 |
278 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774174564 CA7959675 |
278 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147244467 CA7959677 |
279 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7959678 rs776911713 |
279 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140859214 CA395096216 |
280 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7959679 rs140859214 COSM1376771 |
280 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs543639039 COSM76355 CA279448200 |
280 | H>Y | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs143091865 CA7959680 |
282 | N>S | No |
ClinGen ESP ExAC |
|
| TCGA novel | 285 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959684 rs766697983 |
290 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA279448228 rs776412617 |
291 | N>Y | No |
ClinGen Ensembl |
|
|
CA7959686 rs755544446 |
295 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7959689 rs755613091 |
297 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7959691 rs748943506 |
298 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7959694 rs745648349 |
299 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959693 rs186947558 |
299 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770587439 CA7959692 |
299 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7959695 rs771938926 |
300 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395096352 rs771938926 |
300 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760646755 CA7959697 |
301 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760646755 CA279448345 |
301 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA395096354 rs1384496437 |
301 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959699 rs773317054 |
303 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746964899 CA7959716 |
306 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1218055261 CA395096605 |
308 | V>I | No |
ClinGen gnomAD |
|
|
rs1279159546 CA395096612 |
309 | I>V | No |
ClinGen gnomAD |
|
|
CA395096621 rs1320258213 |
310 | L>S | No |
ClinGen gnomAD |
|
|
rs768603819 CA7959717 |
311 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs770938136 CA7959720 |
312 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7959719 rs763074457 |
312 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773230579 CA7959718 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395096637 rs1183305158 |
313 | N>D | No |
ClinGen gnomAD |
|
|
CA395096664 rs1479212950 |
316 | E>D | No |
ClinGen gnomAD |
|
|
CA7959724 rs753029913 |
316 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7959728 rs756797915 |
322 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596767876 CA395096733 |
327 | A>T | No |
ClinGen Ensembl |
|
|
rs1399543159 CA395096749 |
329 | V>A | No |
ClinGen gnomAD |
|
|
CA7959730 rs778529470 |
330 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959731 rs750119531 |
332 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA7959733 rs780031168 |
332 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7959732 rs758099567 |
332 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs746812506 CA7959734 |
333 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385235344 CA395096770 |
333 | R>W | No |
ClinGen TOPMed |
|
|
rs535511312 CA7959736 |
335 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395096797 rs1596767913 |
337 | Y>D | No |
ClinGen Ensembl |
|
|
COSM108980 rs141248272 CA279450866 |
338 | P>L | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA279450862 rs202154788 |
338 | P>T | No |
ClinGen Ensembl |
|
|
rs957875115 CA279450880 |
339 | F>C | No |
ClinGen TOPMed |
|
|
rs774394259 CA395096815 |
340 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774394259 CA7959739 COSM968729 |
340 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772278786 CA7959741 |
341 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395096835 rs1246891667 |
343 | V>M | No |
ClinGen gnomAD |
|
|
CA395096848 rs1447730159 |
345 | T>A | No |
ClinGen TOPMed |
|
|
CA7959743 rs761118395 |
350 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379020135 CA395096891 |
351 | M>T | No |
ClinGen gnomAD |
|
|
CA7959744 rs755041899 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596767953 CA395096896 |
352 | V>L | No |
ClinGen Ensembl |
|
|
rs777229050 CA7959745 |
353 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA279450959 rs267604467 |
356 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA395096919 rs1159361673 |
356 | G>R | No |
ClinGen gnomAD |
|
|
rs762357961 CA7959746 |
358 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395096940 rs1596767973 |
359 | L>M | No |
ClinGen Ensembl |
|
|
rs201308208 CA7959775 |
361 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183029335 CA395099888 |
362 | S>F | No |
ClinGen gnomAD |
|
|
rs61759918 CA279465907 |
368 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs61759918 CA395100020 |
368 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs61759918 CA7959777 |
368 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758506620 CA7959780 |
373 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959779 rs777705170 |
373 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777705170 CA7959778 |
373 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186969215 CA395100142 |
374 | E>V | No |
ClinGen gnomAD |
|
|
rs934912751 CA395100156 |
375 | D>H | No |
ClinGen gnomAD |
|
|
CA279465948 rs934912751 |
375 | D>N | No |
ClinGen gnomAD |
|
|
rs1168848067 CA395100164 |
375 | D>V | No |
ClinGen gnomAD |
|
|
COSM1376775 CA7959784 rs369647146 |
376 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1333054672 CA395100197 |
377 | S>N | No |
ClinGen gnomAD |
|
|
CA279465952 rs202104927 |
377 | S>R | No |
ClinGen TOPMed |
|
|
CA395100218 rs1395346260 |
378 | D>G | No |
ClinGen gnomAD |
|
|
rs748506652 CA7959785 |
378 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7959788 rs763512180 |
379 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959787 rs373515010 |
379 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395100241 rs1277252663 |
380 | P>T | No |
ClinGen gnomAD |
|
|
rs1374368661 CA395100336 |
384 | I>M | No |
ClinGen TOPMed |
|
|
rs1398573976 CA395100333 |
384 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1398573976 CA395100334 |
384 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395100366 rs770495517 |
386 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049837793 CA279466011 |
386 | N>S | No |
ClinGen Ensembl |
|
|
rs1260351325 CA395100380 |
387 | A>G | No |
ClinGen gnomAD |
|
|
rs773704976 CA7959790 |
387 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395100422 rs1410282676 |
390 | S>A | No |
ClinGen gnomAD |
|
|
rs759301638 CA7959791 |
390 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1173987026 CA395100437 |
391 | L>F | No |
ClinGen TOPMed |
|
|
rs1191575250 CA395100462 |
392 | Q>H | No |
ClinGen gnomAD |
|
|
CA7959805 rs771339298 |
393 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758982922 CA7959807 |
402 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379313253 CA395101016 |
403 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771544369 CA7959808 |
404 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA395101024 rs1417743426 |
404 | V>M | No |
ClinGen gnomAD |
|
|
rs200827944 CA279468201 |
405 | E>G | No |
ClinGen gnomAD |
|
|
rs760275748 CA7959810 |
408 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763930159 CA7959811 |
409 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389546872 CA395101090 |
410 | A>P | No |
ClinGen gnomAD |
|
|
rs753595418 CA7959812 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959813 rs761872577 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162229121 CA395101147 |
415 | P>S | No |
ClinGen TOPMed |
|
|
rs1231123397 CA395101168 |
417 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 418 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395101199 rs1238553607 |
421 | N>H | No |
ClinGen gnomAD |
|
|
rs1185591656 CA395101229 |
423 | C>Y | No |
ClinGen TOPMed |
|
|
rs750314198 CA7959815 |
424 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs370086012 CA7959816 |
424 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781378962 CA7959817 |
426 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596777509 RCV001008906 |
427 | Q>missing | No |
ClinVar dbSNP |
|
|
CA7959818 rs151223712 |
427 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778349689 CA7959820 |
428 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs756381354 CA7959819 |
428 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA7959822 rs749657510 |
428 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959823 rs779293588 |
429 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746348878 CA7959824 COSM1376776 |
430 | N>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA279468710 rs948753236 |
436 | Y>H | No |
ClinGen TOPMed |
|
|
CA7959836 rs756463117 |
438 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395101970 rs1423871203 |
439 | H>Y | No |
ClinGen gnomAD |
|
|
CA7959837 rs764425655 |
440 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7959838 rs550929094 |
440 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs757595333 CA7959839 |
441 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938304160 CA279468721 |
443 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395102022 rs938304160 |
443 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395102030 rs938304160 |
443 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7959843 rs779602976 |
448 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1252862296 CA395102159 |
451 | S>F | No |
ClinGen TOPMed |
|
|
CA279468725 rs571246104 |
452 | V>E | No |
ClinGen 1000Genomes |
|
|
CA7959844 rs746504669 |
457 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs928764648 CA279468731 |
457 | C>G | No |
ClinGen TOPMed |
|
|
CA7959845 rs768094072 |
458 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395102244 rs768094072 |
458 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750799196 CA7959858 |
466 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA279468824 rs925384893 |
467 | S>N | No |
ClinGen TOPMed |
|
|
rs1338749970 CA395102457 |
468 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395102472 rs1399577461 |
469 | A>T | No |
ClinGen gnomAD |
|
|
CA395102534 rs1279057610 |
473 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758959059 CA7959859 |
474 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780548455 CA7959860 |
475 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs780548455 CA279468829 |
475 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM460580 CA395102604 rs1277905719 |
476 | S>L | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 483 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279469067 rs72647528 |
486 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 488 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959882 rs200028583 |
489 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs72647529 CA7959880 |
489 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959881 rs72647529 |
489 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279469087 rs72647530 |
490 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202245467 CA279469091 |
490 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7959883 rs72647530 |
490 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1395012003 CA395102899 |
492 | V>I | No |
ClinGen gnomAD |
|
|
CA395102916 rs1329296992 |
493 | N>S | No |
ClinGen gnomAD |
|
|
rs190330851 CA279469099 |
495 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1567269474 CA395102961 |
497 | N>D | No |
ClinGen Ensembl |
|
|
CA7959885 rs778831988 |
497 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959903 rs778921821 |
501 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_015843 | 502 | A>P | No | UniProt | |
|
rs1385880343 CA395103035 |
503 | K>E | No |
ClinGen TOPMed |
|
|
rs1246046952 CA395103050 |
505 | L>W | No |
ClinGen gnomAD |
|
|
rs1567269935 CA395103054 |
506 | I>L | No |
ClinGen Ensembl |
|
|
CA7959904 rs114326911 |
506 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1456651709 CA395103072 |
508 | Y>C | No |
ClinGen TOPMed |
|
|
CA7959905 rs758067435 |
509 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395103079 rs1370620441 |
509 | K>R | No |
ClinGen TOPMed |
|
|
CA7959906 rs113234492 |
511 | L>Q | Bronchiectasis with or without elevated sweat chloride 3 (besc3) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746878962 CA7959907 |
513 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395103120 rs1422714134 |
515 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1422714134 CA395103121 |
515 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769937483 CA7959908 |
515 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs899740797 CA279470400 |
516 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395103124 rs1567269954 |
516 | I>N | No |
ClinGen Ensembl |
|
|
CA7959910 rs144653364 |
517 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771136581 CA7959911 |
519 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103145 rs1413428434 |
519 | S>I | No |
ClinGen gnomAD |
|
|
CA7959913 rs759949272 |
521 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279470409 rs759949272 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103171 rs1277157979 |
523 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762488298 CA7959941 |
526 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA279470659 rs907257211 |
526 | M>L | No |
ClinGen Ensembl |
|
|
CA7959944 rs755000438 |
530 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7959945 rs781120759 |
532 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157458865 CA395103279 |
538 | W>* | No |
ClinGen gnomAD |
|
|
CA395103284 rs1364049130 |
538 | W>C | No |
ClinGen gnomAD |
|
|
rs1178672987 CA395103289 |
539 | M>T | No |
ClinGen TOPMed |
|
|
CA395103314 rs1470396592 |
542 | S>C | No |
ClinGen TOPMed |
|
|
CA395103323 rs757351078 |
544 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA7959947 rs757351078 |
544 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs143742457 CA7959949 |
546 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 548 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327228298 CA395103348 |
548 | E>K | No |
ClinGen gnomAD |
|
|
CA395103359 rs1373759692 |
549 | I>T | No |
ClinGen gnomAD |
|
|
CA7959950 rs772181481 |
550 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1317772834 CA395103368 COSM3706944 |
551 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7959954 rs769079157 |
554 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769079157 CA7959953 |
554 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103419 rs1333979292 |
558 | F>I | No |
ClinGen gnomAD |
|
|
CA395103438 rs1224631006 |
560 | I>S | No |
ClinGen TOPMed |
|
|
rs1356100584 CA395103443 |
561 | I>T | No |
ClinGen TOPMed |
|
|
CA7959955 rs762357862 |
561 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1596779472 CA395103447 |
562 | A>P | No |
ClinGen Ensembl |
|
|
rs769475472 CA7959956 |
562 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002329797 CA279470779 |
563 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs374379777 CA7959957 |
564 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM258621 rs762732326 CA7959958 |
564 | R>H | large_intestine central_nervous_system Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 565 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000993039 CA395103471 rs1596779485 |
566 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1367515424 CA395103497 |
569 | A>G | No |
ClinGen gnomAD |
|
|
rs1343012997 CA395103513 |
571 | E>D | No |
ClinGen TOPMed |
|
|
rs1166025319 CA395103507 |
571 | E>K | No |
ClinGen gnomAD |
|
|
rs1445153250 CA395103521 |
572 | W>C | No |
ClinGen gnomAD |
|
|
rs751165472 CA7959960 |
572 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751165472 CA279470795 |
572 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401066895 CA395103532 |
574 | A>P | No |
ClinGen TOPMed |
|
|
rs1178763713 CA395103543 |
575 | W>C | No |
ClinGen gnomAD |
|
|
CA395103537 rs1298084722 |
575 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA279470815 rs1019380433 |
580 | P>S | No |
ClinGen gnomAD |
|
|
rs1315810714 CA395103582 |
581 | C>F | No |
ClinGen gnomAD |
|
|
CA7959964 rs752680757 |
581 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103580 rs1315810714 |
581 | C>Y | No |
ClinGen gnomAD |
|
|
CA7959965 rs756016653 |
584 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959968 rs758448932 |
585 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1708951 rs779033031 CA7959967 |
585 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7959966 rs779033031 |
585 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs780147849 CA7959969 |
586 | R>C | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148179456 CA7959970 COSM968733 |
586 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148179456 CA395103609 |
586 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395103619 rs1475309743 |
587 | S>R | No |
ClinGen gnomAD |
|
|
CA395103629 rs1189124036 |
588 | P>L | No |
ClinGen gnomAD |
|
|
CA395103647 rs1409930785 |
590 | G>D | No |
ClinGen gnomAD |
|
|
CA395103653 rs1451382607 |
591 | Q>K | No |
ClinGen TOPMed |
|
|
rs748702852 CA7959973 |
592 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959972 rs781671387 |
592 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA279470856 rs1032766775 |
593 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs972234433 CA279470868 |
596 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs975279442 CA279470873 |
598 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA279470878 rs377305244 |
599 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375090744 CA395103731 |
599 | D>N | No |
ClinGen gnomAD |
|
|
CA395103744 rs1338233777 |
600 | D>G | No |
ClinGen gnomAD |
|
|
rs772835346 CA7959977 |
600 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7959976 rs772835346 |
600 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103753 rs1213758165 |
601 | D>Y | No |
ClinGen gnomAD |
|
|
CA395103765 rs1567270237 |
602 | L>Q | No |
ClinGen Ensembl |
|
|
rs1349054540 CA395103776 |
603 | P>R | No |
ClinGen TOPMed |
|
|
CA395103774 rs1309118904 |
603 | P>S | No |
ClinGen gnomAD |
|
|
CA395103782 rs528262449 |
604 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768437751 CA279470960 |
604 | T>I | No |
ClinGen Ensembl |
|
|
CA7959980 rs528262449 |
604 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573829948 CA279470964 |
606 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 607 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959982 rs775262290 |
613 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395103885 rs1474666302 |
614 | A>D | No |
ClinGen TOPMed gnomAD |
|
| VAR_015844 | 614 | A>S | No | UniProt | |
|
rs760665964 CA7959983 |
615 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1430760332 CA395103933 |
619 | V>E | No |
ClinGen gnomAD |
|
|
CA7959984 rs146434247 |
619 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753746795 CA7959985 |
620 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7959986 rs758443894 |
620 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs139012605 CA279471014 |
621 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395103954 rs1429772963 |
622 | T>S | No |
ClinGen gnomAD |
|
|
rs1245224779 CA395103961 |
623 | P>A | No |
ClinGen TOPMed |
|
|
CA7959989 rs72647542 |
623 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395103969 rs1555476091 |
624 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 626 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 626 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7959991 rs748508646 |
626 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA395104025 rs1348067376 |
629 | T>A | No |
ClinGen gnomAD |
|
|
rs142967227 CA7959992 |
629 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA395104030 rs142967227 |
629 | T>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs150854967 CA7959993 |
631 | R>C | Variant assessed as Somatic; 0.0003738 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139283096 CA7959994 COSM84336 |
631 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395104051 rs139283096 |
631 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395104044 rs150854967 |
631 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395104064 rs1243101382 CA395104063 |
632 | L>F | No |
ClinGen gnomAD |
|
|
rs770396816 CA7959995 |
633 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1487034037 CA395104065 |
633 | E>K | No |
ClinGen gnomAD |
|
|
CA279471051 rs745585385 |
635 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773879529 CA7959996 |
635 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7959997 rs745585385 |
635 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395104115 rs1400293029 |
637 | S>F | No |
ClinGen gnomAD |
|
|
CA395104127 rs1160077171 |
638 | N>K | No |
ClinGen gnomAD |
|
|
CA395104131 rs1346788302 |
639 | Q>E | No |
ClinGen gnomAD |
|
|
rs760463856 CA7960000 CA7960001 |
639 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7959999 rs775062537 |
639 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279471060 rs775062537 |
639 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279471082 rs1011382700 |
643 | T>S | No |
ClinGen gnomAD |
|
|
CA395104177 rs1596779740 |
644 | Q>R | No |
ClinGen Ensembl |
|
|
rs201541961 CA395104195 CA7960006 |
645 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395104199 rs1319165096 |
646 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA279471098 rs896632639 |
647 | D>E | No |
ClinGen TOPMed |
|
|
rs72647543 CA7960007 |
647 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7960008 rs781060718 |
650 | L>R | No |
ClinGen ExAC gnomAD |
3 associated diseases with P51170
[MIM: 618114]: Liddle syndrome 2 (LIDLS2)
A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269|PubMed:12473862, ECO:0000269|PubMed:17634077, ECO:0000269|PubMed:7550319}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613071]: Bronchiectasis with or without elevated sweat chloride 3 (BESC3)
A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269|PubMed:18507830, ECO:0000269|PubMed:19017867}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 264350]: Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269|PubMed:8640238}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269|PubMed:12473862, ECO:0000269|PubMed:17634077, ECO:0000269|PubMed:7550319}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269|PubMed:18507830, ECO:0000269|PubMed:19017867}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269|PubMed:8640238}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 regional properties for P51170
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Epithelial sodium channel, conserved site | 389 - 409 | IPR020903 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| 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. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sodium channel complex | An ion channel complex through which sodium ions pass. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ion channel activity | Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). |
| ligand-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| sodium channel activity | Enables the facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| WW domain binding | Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 aldosterone | 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 aldosterone stimulus. |
| cellular response to amiloride | 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 amiloride stimulus. |
| cellular response to vasopressin | 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 vasopressin 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. |
| multicellular organismal water homeostasis | Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| sensory perception of salty taste | The series of events required to receive a salty taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sensory perception of sour taste | The series of events required to receive a sour taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. |
| 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. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1MJW3 | SCNN1G | Amiloride-sensitive sodium channel subunit gamma | Bos taurus (Bovine) | PR |
| H2QAR5 | SCNN1G | Amiloride-sensitive sodium channel subunit gamma | Pan troglodytes (Chimpanzee) | PR |
| P37088 | SCNN1A | Amiloride-sensitive sodium channel subunit alpha | Homo sapiens (Human) | PR |
| Q61180 | Scnn1a | Amiloride-sensitive sodium channel subunit alpha | Mus musculus (Mouse) | PR |
| P37089 | Scnn1a | Amiloride-sensitive sodium channel subunit alpha | Rattus norvegicus (Rat) | PR |
| Q10025 | del-10 | Degenerin-like protein del-10 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPGEKIKAK | IKKNLPVTGP | QAPTIKELMR | WYCLNTNTHG | CRRIVVSRGR | LRRLLWIGFT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTAVALILWQ | CALLVFSFYT | VSVSIKVHFR | KLDFPAVTIC | NINPYKYSTV | RHLLADLEQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TREALKSLYG | FPESRKRREA | ESWNSVSEGK | QPRFSHRIPL | LIFDQDEKGK | ARDFFTGRKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KVGGSIIHKA | SNVMHIESKQ | VVGFQLCSND | TSDCATYTFS | SGINAIQEWY | KLHYMNIMAQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPLEKKINMS | YSAEELLVTC | FFDGVSCDAR | NFTLFHHPMH | GNCYTFNNRE | NETILSTSMG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSEYGLQVIL | YINEEEYNPF | LVSSTGAKVI | IHRQDEYPFV | EDVGTEIETA | MVTSIGMHLT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESFKLSEPYS | QCTEDGSDVP | IRNIYNAAYS | LQICLHSCFQ | TKMVEKCGCA | QYSQPLPPAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NYCNYQQHPN | WMYCYYQLHR | AFVQEELGCQ | SVCKEACSFK | EWTLTTSLAQ | WPSVVSEKWL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LPVLTWDQGR | QVNKKLNKTD | LAKLLIFYKD | LNQRSIMESP | ANSIEMLLSN | FGGQLGLWMS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CSVVCVIEII | EVFFIDFFSI | IARRQWQKAK | EWWAWKQAPP | CPEAPRSPQG | QDNPALDIDD |
| 610 | 620 | 630 | 640 | ||
| DLPTFNSALH | LPPALGTQVP | GTPPPKYNTL | RLERAFSNQL | TDTQMLDEL |