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

1 paper

NM_002240.5

p.Q391H

c.1173A>C

Surrounding Variants

1 paper

NM_002240.5

p.Q391H

c.1173A>T

1 paper

NM_002240.5

p.H392Y

c.1174C>T

1 paper

NM_002240.5

p.H392Q

c.1176T>G

1 paper

NM_002240.5

p.H392Q

c.1176T>A

1 paper

NM_002240.5

p.A393S

c.1177G>T

1 paper

NM_002240.5

p.N390S

c.1169A>G

1 paper

NM_002240.5

p.S387N

c.1160G>A

1 paper

NM_002240.5

p.S387G

c.1159A>G

1 paper

NM_002240.5

p.S386F

c.1157C>T

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.S382R

c.1146T>G