Varaico: Literature-Extracted Genetic Variants

KCNJ16

103 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 37–175UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 182–349UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 16

HGNC Alias Symbols

Kir5.1; BIR9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170741.4

p.H395R

c.1184A>G

Surrounding Variants

1 paper

NM_170741.4

p.P401A

c.1201C>G

1 paper

NM_170741.4

p.V380V

c.1140C>T

1 paper

NM_170741.4

p.I412V

c.1234A>G

1 paper

NM_170741.4

p.Q417L

c.1250A>T

1 paper

NM_170741.4

p.R371*

c.1111C>T

1 paper

NM_170741.4

p.T364K

c.1091C>A

2 papers

NM_170741.4

p.I353V

c.1057A>G

1 paper

NM_170741.4

p.P337S

c.1009C>T

1 paper

NM_170741.4

p.N324D

c.970A>G

1 paper

NM_170741.4

p.E303K

c.907G>A

1 paper

NM_170741.4

p.V300G

c.899T>G

1 paper

NM_170741.4

p.R296K

c.887G>A