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.H115N

c.343C>A

Surrounding Variants

1 paper

NM_000525.4

p.H115L

c.344A>T

1 paper

NM_000525.4

p.I114T

c.341T>C

1 paper

NM_000525.4

p.I114N

c.341T>A

7 papers

NM_000525.4

p.S116P

c.346T>C

2 papers

NM_000525.4

p.S113G

c.337A>G

6 papers

NM_000525.4

p.S118L

c.353C>T

2 papers

NM_000525.4

p.F117_S118del1

c.350_352delAGA

1 paper

NM_000525.4

p.S118S

c.354G>A

1 paper

NM_000525.4

p.V111L

c.331G>C

5 papers

NM_000525.4

p.V111I

c.331G>A

1 paper

NM_000525.4

p.S119insFs

c.356dupC

1 paper

NM_000525.4

p.P109T

c.325C>A