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.A349V

c.1046C>T

Surrounding Variants

1 paper

NM_004982.4

p.R352W

c.1054C>T

2 papers

NM_004982.4

p.R352Q

c.1055G>A

10 papers

NM_004982.4

p.V346I

c.1036G>A

1 paper

NM_004982.4

p.A355T

c.1063G>A

6 papers

NM_004982.4

p.G343D

c.1028G>A

1 paper

NM_004982.4

p.R356*

c.1066C>T

1 paper

NM_004982.4

p.R356Q

c.1067G>A

1 paper

NM_004982.4

p.E357Q

c.1069G>C

1 paper

NM_004982.4

p.E357G

c.1070A>G

1 paper

NM_004982.4

p.Y339C

c.1016A>G

1 paper

NM_004982.4

p.D338E

c.1014T>G

1 paper

NM_004982.4

p.D338E

c.1014T>A