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.V300G

c.899T>G

Surrounding Variants

1 paper

NM_170741.4

p.E303K

c.907G>A

1 paper

NM_170741.4

p.R296K

c.887G>A

1 paper

NM_170741.4

p.S295P

c.883T>C

1 paper

NM_170741.4

p.T291_H293del3

c.871_878del9

1 paper

NM_170741.4

p.N324D

c.970A>G

1 paper

NM_170741.4

p.P337S

c.1009C>T

2 papers

NM_170741.4

p.S261G

c.781A>G

1 paper

NM_170741.4

p.E256K

c.766G>A

1 paper

NM_170741.4

p.V254V

c.762C>G

4 papers

NM_170741.4

p.P250L

c.749C>T

1 paper

NM_170741.4

p.V248I

c.742G>A

2 papers

NM_170741.4

p.I353V

c.1057A>G