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

1 paper

NM_021012.5

p.I167L

c.499A>C

Surrounding Variants

1 paper

NM_021012.5

p.V168G

c.503T>G

1 paper

NM_021012.5

p.V163M

c.487G>A

8 papers

NM_021012.5

p.D173N

c.517G>A

2 papers

NM_021012.5

p.A158Fs

c.473delinsAACCATGCAATTGGAGAAAAAAAFs

12 papers

NM_021012.5

p.P156L

c.467C>T

2 papers

NM_021012.5

p.I177I

c.531T>A

1 paper

NM_021012.5

p.G178S

c.532G>A

3 papers

NM_021012.5

p.G178R

c.532G>C

1 paper

NM_021012.5

p.G178fs

c.532_533fs

4 papers

NM_021012.5

p.G178D

c.533G>A

1 paper

NM_021012.5

p.T152T

c.456G>A

1 paper

NM_021012.5

p.R149ins1

c.446_447insAAC