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

1–12 of 79 variants

10 papers

NM_170741.4

p.A167V

c.500C>T

4 papers

NM_170741.4

p.T64I

c.191C>T

4 papers

NM_170741.4

p.I132R

c.395T>G

4 papers

NM_170741.4

p.G135A

c.404G>C

4 papers

NM_170741.4

p.R137S

c.409C>A

4 papers

NM_170741.4

p.R137C

c.409C>T

4 papers

NM_170741.4

p.P250L

c.749C>T

3 papers

NM_170741.4

p.K48*

c.142A>T

3 papers

NM_170741.4

p.R176*

c.526C>T

3 papers

NM_170741.4

p.A188S

c.562G>T

2 papers

NM_170741.4

p.I11V

c.31A>G

2 papers

NM_170741.4

p.F97Y

c.290T>A