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

8 papers

NM_002242.4

p.T175I

c.524C>T

Surrounding Variants

2 papers

NM_002242.4

p.I170V

c.508A>G

7 papers

NM_002242.4

p.F168L

c.504T>G

7 papers

NM_002242.4

p.F168L

c.504T>A

7 papers

NM_002242.4

p.F168L

c.502T>C

1 paper

NM_002242.4

p.G183D

c.548G>A

2 papers

NM_002242.4

p.A167V

c.500C>T

17 papers

NM_002242.4

p.R166*

c.496C>T

1 paper

NM_002242.4

p.N186K

c.558T>G

1 paper

NM_002242.4

p.N186K

c.558T>A

14 papers

NM_002242.4

p.R162Q

c.485G>A

35 papers

NM_002242.4

p.R162W

c.484C>T

1 paper

NM_002242.4

p.A161S

c.481G>T