Varaico: Literature-Extracted Genetic Variants

KCNJ8

240 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

IRKaa 37–184UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 191–363UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 8

HGNC Alias Symbol

Kir6.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004982.4

p.S422W

c.1265C>G

Surrounding Variants

87 papers

NM_004982.4

p.S422L

c.1265C>T

1 paper

NM_004982.4

p.S422A

c.1264T>G

1 paper

NM_004982.4

p.Q419E

c.1255C>G

1 paper

NM_004982.4

p.P415T

c.1243C>A

1 paper

NM_004982.4

p.T414A

c.1240A>G

1 paper

NM_004982.4

p.M413T

c.1238T>C

1 paper

NM_004982.4

p.Q411P

c.1232A>C

1 paper

NM_004982.4

p.M406I

c.1218G>T

1 paper

NM_004982.4

p.M406I

c.1218G>C

1 paper

NM_004982.4

p.M406I

c.1218G>A

1 paper

NM_004982.4

p.M406L

c.1216A>T

1 paper

NM_004982.4

p.M406V

c.1216A>G