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

Selected Variant

2 papers

NM_021012.5

p.H410Y

c.1228C>T

Surrounding Variants

2 papers

NM_021012.5

p.Q407*

c.1219C>T

2 papers

NM_021012.5

p.S405I

c.1214G>T

1 paper

NM_021012.5

p.D402E

c.1206C>A

2 papers

NM_021012.5

p.D402D

c.1206C>T

1 paper

NM_021012.5

p.R401W

c.1201C>T

1 paper

NM_021012.5

p.G419S

c.1255G>A

1 paper

NM_021012.5

p.R399L

c.1196G>T

2 papers

NM_021012.5

p.R399*

c.1195C>T

1 paper

NM_021012.5

p.G394R

c.1180G>A

1 paper

NM_021012.5

p.G394R

c.1180G>C

1 paper

NM_021012.5

p.E391*

c.1171G>T

7 papers

NM_021012.5

p.E430G

c.1289A>G