Varaico: Literature-Extracted Genetic Variants

KCNJ6

216 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassi...

Pfam Domains

IRKaa 57–196UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 203–375UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 6

HGNC Previous Symbol

KCNJ7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002240.5

p.L381P

c.1142T>C

Surrounding Variants

1 paper

NM_002240.5

p.S382R

c.1144A>C

1 paper

NM_002240.5

p.S382I

c.1145G>T

1 paper

NM_002240.5

p.S382N

c.1145G>A

1 paper

NM_002240.5

p.S382R

c.1146T>G

1 paper

NM_002240.5

p.S382R

c.1146T>A

1 paper

NM_002240.5

p.V385L

c.1153G>T

1 paper

NM_002240.5

p.V385L

c.1153G>C

1 paper

NM_002240.5

p.A377E

c.1130C>A

1 paper

NM_002240.5

p.A377T

c.1129G>A

1 paper

NM_002240.5

p.S386F

c.1157C>T

1 paper

NM_002240.5

p.S387G

c.1159A>G

1 paper

NM_002240.5

p.S387N

c.1160G>A