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.R369Q

c.1106G>A

Surrounding Variants

1 paper

NM_013348.4

p.L377fs

c.1129_1130fs

1 paper

NM_013348.4

p.L377_K378delFs

c.1130_1134del5

1 paper

NM_013348.4

p.L377P

c.1130T>C

1 paper

NM_013348.4

p.P382H

c.1145C>A

1 paper

NM_013348.4

p.P356T

c.1066C>A

1 paper

NM_013348.4

p.R351C

c.1051C>T

1 paper

NM_013348.4

p.E343V

c.1028A>T

1 paper

NM_013348.4

p.E404*

c.1210G>T

1 paper

NM_013348.4

p.R330H

c.989G>A

1 paper

NM_013348.4

p.W327R

c.979T>A

1 paper

NM_013348.4

p.W327R

c.979T>C

1 paper

NM_013348.4

p.E417delFs

c.1249_1250delGA