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.G19S

c.55G>A

Surrounding Variants

1 paper

NM_170741.4

p.E23K

c.67G>A

1 paper

NM_170741.4

p.E23D

c.69G>C

1 paper

NM_170741.4

p.E23D

c.69G>T

1 paper

NM_170741.4

p.I25N

c.74T>A

1 paper

NM_170741.4

p.I25I

c.75T>A

1 paper

NM_170741.4

p.I26T

c.77T>C

2 papers

NM_170741.4

p.I11V

c.31A>G

1 paper

NM_170741.4

p.E28K

c.82G>A

1 paper

NM_170741.4

p.S6I

c.17G>T

1 paper

NM_170741.4

p.R35Q

c.104G>A

1 paper

NM_170741.4

p.M1V

c.1A>G

1 paper

NM_170741.4

p.C43*

c.129T>A