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.K48K

c.144G>A

Surrounding Variants

2 papers

NM_021012.5

p.V47I

c.139G>A

2 papers

NM_021012.5

p.Q52R

c.155A>G

1 paper

NM_021012.5

p.Q52L

c.155A>T

9 papers

NM_021012.5

p.R43H

c.128G>A

1 paper

NM_021012.5

p.C42C

c.126C>T

5 papers

NM_021012.5

p.E56A

c.167A>C

4 papers

NM_021012.5

p.R40H

c.119G>A

1 paper

NM_021012.5

p.R40C

c.118C>T

1 paper

NM_021012.5

p.R39R

c.117G>C

5 papers

NM_021012.5

p.R39Q

c.116G>A

2 papers

NM_021012.5

p.A58T

c.172G>A

3 papers

NM_021012.5

p.V36L

c.106G>C