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

4 papers

NM_170741.4

p.G135A

c.404G>C

Surrounding Variants

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.I132R

c.395T>G

1 paper

NM_170741.4

p.I132L

c.394A>T

1 paper

NM_170741.4

p.Q129*

c.385C>T

1 paper

NM_170741.4

p.A121T

c.361G>A

1 paper

NM_170741.4

p.C158G

c.472T>G

1 paper

NM_170741.4

p.P110L

c.329C>T

1 paper

NM_170741.4

p.F163fs

c.487_488fs

1 paper

NM_170741.4

p.F163S

c.488T>C

1 paper

NM_170741.4

p.G166A

c.497G>C

10 papers

NM_170741.4

p.A167V

c.500C>T