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

2 papers

NM_002242.4

p.R203Q

c.608G>A

Surrounding Variants

1 paper

NM_002242.4

p.L208V

c.622C>G

3 papers

NM_002242.4

p.R195Q

c.584G>A

1 paper

NM_002242.4

p.E211G

c.632A>G

1 paper

NM_002242.4

p.R195*

c.583C>T

2 papers

NM_002242.4

p.G215D

c.644G>A

1 paper

NM_002242.4

p.L217P

c.650T>C

2 papers

NM_002242.4

p.Y218H

c.652T>C

8 papers

NM_002242.4

p.Q219*

c.655C>T

1 paper

NM_002242.4

p.N186K

c.558T>G

1 paper

NM_002242.4

p.N186K

c.558T>A

1 paper

NM_002242.4

p.G183D

c.548G>A

1 paper

NM_002242.4

p.G228C

c.682G>T