Varaico: Literature-Extracted Genetic Variants

KCNJ12

244 papers

RefSeq Summary

This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac...

Pfam Domains

IRK_Naa 2–46UCSCInward rectifier potassium channel N-terminal

IRKaa 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–367UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 12

HGNC Previous Symbol

KCNJN1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 150 variants

16 papers

NM_021012.5

p.E139K

c.415G>A

15 papers

NM_021012.5

p.G145S

c.433G>A

13 papers

NM_021012.5

p.R261H

c.782G>A

13 papers

NM_021012.5

p.I262S

c.785T>G

12 papers

NM_021012.5

p.P156L

c.467C>T

12 papers

NM_021012.5

p.A185V

c.554C>T

11 papers

NM_021012.5

p.Q192H

c.576G>C

11 papers

NM_021012.5

p.Q192H

c.576G>T

11 papers

NM_021012.5

p.S343L

c.1028C>T

10 papers

NM_021012.5

p.M71I

c.213G>A

9 papers

NM_021012.5

p.R43H

c.128G>A

9 papers

NM_021012.5

p.L211F

c.631C>T