Varaico: Literature-Extracted Genetic Variants

KCNJ14

68 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 53–191UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 198–371UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 14

HGNC Alias Symbols

Kir2.4; IRK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013348.4

p.R62C

c.184C>T

Surrounding Variants

1 paper

NM_013348.4

p.N60N

c.180C>T

1 paper

NM_013348.4

p.K54M

c.161A>T

1 paper

NM_013348.4

p.Q42L

c.125A>T

1 paper

NM_013348.4

p.W88C

c.264G>C

1 paper

NM_013348.4

p.W88C

c.264G>T

1 paper

NM_013348.4

p.C95del1

c.283_284delTGC

1 paper

NM_013348.4

p.S96C

c.287C>G

1 paper

NM_013348.4

p.E25*

c.73G>T

1 paper

NM_013348.4

p.L102Q

c.305T>A

1 paper

NM_013348.4

p.R9H

c.26G>A

2 papers

NM_013348.4

p.G116S

c.346G>A

1 paper

NM_013348.4

p.D117V

c.350A>T