Varaico: Literature-Extracted Genetic Variants

KCNJ11

1,240 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRKaa 1–87UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 94–267UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 11

HGNC Alias Symbols

Kir6.2; BIR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000525.4

p.V339V

c.1017G>T

Surrounding Variants

1 paper

NM_000525.4

p.V339G

c.1016T>G

3 papers

NM_000525.4

p.P340H

c.1019C>A

1 paper

NM_000525.4

p.T341A

c.1021A>G

1 paper

NM_000525.4

p.T341I

c.1022C>T

2 papers

NM_000525.4

p.K338E

c.1012A>G

31 papers

NM_000525.4

p.V337I

c.1009G>A

NM_001166290.2

p.V250I

c.748G>A

1 paper

NM_000525.4

p.P342L

c.1025C>T

1 paper

NM_000525.4

p.L343V

c.1027C>G

2 papers

NM_000525.4

p.T336A

c.1006A>G

2 papers

NM_000525.4

p.N335K

c.1005C>G

2 papers

NM_000525.4

p.N335K

c.1005C>A

1 paper

NM_000525.4

p.C344S

c.1030T>A