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.V212L

c.634G>C

Surrounding Variants

1 paper

NM_170741.4

p.V212L

c.634G>T

1 paper

NM_170741.4

p.H210D

c.628C>G

1 paper

NM_170741.4

p.F206L

c.616T>C

1 paper

NM_170741.4

p.R222G

c.664C>G

1 paper

NM_170741.4

p.G229R

c.685G>A

1 paper

NM_170741.4

p.D194H

c.580G>C

1 paper

NM_170741.4

p.R230K

c.689G>A

1 paper

NM_170741.4

p.R193K

c.578G>A

3 papers

NM_170741.4

p.A188S

c.562G>T

1 paper

NM_170741.4

p.Y186_A188del3

c.556_563del9

1 paper

NM_170741.4

p.R176G

c.526C>G

3 papers

NM_170741.4

p.R176*

c.526C>T