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

1 paper

NM_002242.4

p.I9M

c.27T>G

Surrounding Variants

1 paper

NM_002242.4

p.V8L

c.22G>C

1 paper

NM_002242.4

p.L12H

c.35T>A

1 paper

NM_002242.4

p.L13V

c.37C>G

1 paper

NM_002242.4

p.M1insFs

c.3dupG

1 paper

NM_002242.4

p.M1_D2insFs

c.3_4insT

1 paper

NM_002242.4

p.M1Fs

c.1delinsAAFs

2 papers

NM_002242.4

p.M1T

c.2T>C

1 paper

NM_002242.4

p.M20K

c.59T>A

1 paper

NM_002242.4

p.K23N

c.69G>T

1 paper

NM_002242.4

p.K23N

c.69G>C

1 paper

NM_002242.4

p.A34A

c.102T>G

1 paper

NM_002242.4

p.L38F

c.112C>T