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.T71P

c.211A>C

Surrounding Variants

2 papers

NM_000525.4

p.T71S

c.211A>T

1 paper

NM_000525.4

p.T71A

c.211A>G

2 papers

NM_000525.4

p.T71R

c.212C>G

1 paper

NM_000525.4

p.H70fs

c.208_209fs

1 paper

NM_000525.4

p.H70insFs

c.209dupA

3 papers

NM_000525.4

p.T71K

c.212C>A

2 papers

NM_000525.4

p.T71T

c.213A>T

1 paper

NM_000525.4

p.H70P

c.209A>C

1 paper

NM_000525.4

p.L72L

c.216G>A

1 paper

NM_000525.4

p.P69R

c.206C>G

7 papers

NM_000525.4

p.W68C

c.204G>T

7 papers

NM_000525.4

p.W68C

c.204G>C