Varaico: Literature-Extracted Genetic Variants

KCNJ2

812 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRK_Naa 1–47UCSCInward rectifier potassium channel N-terminal

IRKaa 48–186UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 193–366UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 2

HGNC Alias Symbols

Kir2.1; IRK1; LQT7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000891.3

p.S342C

c.1025C>G

Surrounding Variants

1 paper

NM_000891.3

p.K346Q

c.1036A>C

19 papers

NM_000891.3

p.K346T

c.1037A>C

1 paper

NM_000891.3

p.Y336delFs

c.1008delC

4 papers

NM_000891.3

p.E349K

c.1045G>A

1 paper

NM_000891.3

p.V350F

c.1048G>T

1 paper

NM_000891.3

p.K334T

c.1001A>C

5 papers

NM_000891.3

p.P351S

c.1051C>T

2 papers

NM_000891.3

p.T353A

c.1057A>G

2 papers

NM_000891.3

p.T353I

c.1058C>T

1 paper

NM_000891.3

p.P354S

c.1060C>T

1 paper

NM_000891.3

p.L330R

c.989T>G

1 paper

NM_000891.3

p.L355F

c.1063C>T