Varaico: Literature-Extracted Genetic Variants

KCNJ15

80 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 30–171UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 178–349UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 15

HGNC Alias Symbols

Kir4.2; Kir1.3; IRKK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170736.3

p.R227L

c.680G>T

Surrounding Variants

1 paper

NM_170736.3

p.N231K

c.693C>A

1 paper

NM_170736.3

p.N231K

c.693C>G

1 paper

NM_170736.3

p.N231N

c.693C>T

1 paper

NM_170736.3

p.H238D

c.712C>G

1 paper

NM_170736.3

p.H238Y

c.712C>T

1 paper

NM_170736.3

p.H238H

c.714C>T

1 paper

NM_170736.3

p.L248P

c.743T>C

1 paper

NM_170736.3

p.M252R

c.755T>G

1 paper

NM_170736.3

p.F254L

c.760T>C

1 paper

NM_170736.3

p.F254L

c.762C>A

1 paper

NM_170736.3

p.F254L

c.762C>G

1 paper

NM_170736.3

p.V199L

c.595G>C