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

4 papers

NM_021012.5

p.S371R

c.1113C>A

Surrounding Variants

5 papers

NM_021012.5

p.S371R

c.1113C>G

2 papers

NM_021012.5

p.S371S

c.1113C>T

4 papers

NM_021012.5

p.S371R

c.1111A>C

1 paper

NM_021012.5

p.N365S

c.1094A>G

7 papers

NM_021012.5

p.E378K

c.1132G>A

1 paper

NM_021012.5

p.N379K

c.1137C>A

1 paper

NM_021012.5

p.N379K

c.1137C>G

4 papers

NM_021012.5

p.E380K

c.1138G>A

1 paper

NM_021012.5

p.K360T

c.1079A>C

1 paper

NM_021012.5

p.A359V

c.1076C>T

1 paper

NM_021012.5

p.S385R

c.1153A>C

1 paper

NM_021012.5

p.S385R

c.1155C>A