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.K39R

c.116A>G

Surrounding Variants

1 paper

NM_004982.4

p.K39E

c.115A>G

1 paper

NM_004982.4

p.A38S

c.112G>T

1 paper

NM_004982.4

p.C43S

c.127T>A

1 paper

NM_004982.4

p.C43S

c.128G>C

1 paper

NM_004982.4

p.C43*

c.129C>A

2 papers

NM_004982.4

p.A46V

c.137C>T

1 paper

NM_004982.4

p.L31P

c.92T>C

1 paper

NM_004982.4

p.R30S

c.88C>A

1 paper

NM_004982.4

p.D29G

c.86A>G

2 papers

NM_004982.4

p.R28P

c.83G>C

5 papers

NM_004982.4

p.Q53R

c.158A>G

1 paper

NM_004982.4

p.R23L

c.68G>T