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

7 papers

NM_000525.4

p.E51A

c.152A>C

Surrounding Variants

3 papers

NM_000525.4

p.E51G

c.152A>G

2 papers

NM_000525.4

p.E51*

c.151G>T

1 paper

NM_000525.4

p.E51D

c.153G>T

1 paper

NM_000525.4

p.E51D

c.153G>C

1 paper

NM_000525.4

p.Q52*

c.154C>T

7 papers

NM_000525.4

p.Q52E

c.154C>G

2 papers

NM_000525.4

p.Q52K

c.154C>A

1 paper

NM_000525.4

p.R50L

c.149G>T

43 papers

NM_000525.4

p.R50P

c.149G>C

53 papers

NM_000525.4

p.R50Q

c.149G>A

9 papers

NM_000525.4

p.Q52L

c.155A>T

73 papers

NM_000525.4

p.Q52R

c.155A>G