Varaico: Literature-Extracted Genetic Variants

KCNJ13

150 papers

RefSeq Summary

This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded pro...

Pfam Domains

IRKaa 21–163UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 170–338UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 13

HGNC Alias Symbols

Kir7.1; Kir1.4; LCA16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002242.4

p.V322A

c.965T>C

Surrounding Variants

1 paper

NM_002242.4

p.P323A

c.967C>G

1 paper

NM_002242.4

p.P323R

c.968C>G

1 paper

NM_002242.4

p.T321A

c.961A>G

1 paper

NM_002242.4

p.E324A

c.971A>C

1 paper

NM_002242.4

p.P326A

c.976C>G

1 paper

NM_002242.4

p.F318S

c.953T>C

1 paper

NM_002242.4

p.F318Y

c.953T>A

1 paper

NM_002242.4

p.T327A

c.979A>G

1 paper

NM_002242.4

p.Q312E

c.934C>G

2 papers

NM_002242.4

p.G309C

c.925G>T

1 paper

NM_002242.4

p.T337A

c.1009A>G

1 paper

NM_002242.4

p.T337I

c.1010C>T