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

3 papers

NM_170741.4

p.K48*

c.142A>T

Surrounding Variants

1 paper

NM_170741.4

p.C43*

c.129T>A

1 paper

NM_170741.4

p.G55R

c.163G>A

1 paper

NM_170741.4

p.Y57*

c.171T>A

1 paper

NM_170741.4

p.Y57*

c.171T>G

1 paper

NM_170741.4

p.V59G

c.176T>G

1 paper

NM_170741.4

p.R35Q

c.104G>A

1 paper

NM_170741.4

p.F62_T63del1

c.186_188delCAC

1 paper

NM_170741.4

p.T64del1

c.190_191delACT

1 paper

NM_170741.4

p.T64P

c.190A>C

4 papers

NM_170741.4

p.T64I

c.191C>T

1 paper

NM_170741.4

p.T64T

c.192T>A

1 paper

NM_170741.4

p.T68A

c.202A>G