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.L102Q

c.305T>A

Surrounding Variants

1 paper

NM_170741.4

p.N104delFs

c.311delA

2 papers

NM_170741.4

p.F97Y

c.290T>A

1 paper

NM_170741.4

p.F97_H98del1

c.291_293delTCA

1 paper

NM_170741.4

p.P110L

c.329C>T

1 paper

NM_170741.4

p.V91fs

c.271_272fs

1 paper

NM_170741.4

p.V91fs

c.271_272fs

1 paper

NM_170741.4

p.W85R

c.253T>A

1 paper

NM_170741.4

p.W85R

c.253T>C

1 paper

NM_170741.4

p.A121T

c.361G>A

1 paper

NM_170741.4

p.Q129*

c.385C>T

1 paper

NM_170741.4

p.I132L

c.394A>T

4 papers

NM_170741.4

p.I132R

c.395T>G