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.I160M

c.480T>G

Surrounding Variants

1 paper

NM_002242.4

p.I160T

c.479T>C

1 paper

NM_002242.4

p.I160N

c.479T>A

1 paper

NM_002242.4

p.A161S

c.481G>T

35 papers

NM_002242.4

p.R162W

c.484C>T

14 papers

NM_002242.4

p.R162Q

c.485G>A

1 paper

NM_002242.4

p.A158A

c.474G>A

1 paper

NM_002242.4

p.A158V

c.473C>T

1 paper

NM_002242.4

p.V157L

c.469G>T

1 paper

NM_002242.4

p.V157L

c.469G>C

1 paper

NM_002242.4

p.F156Y

c.467T>A

1 paper

NM_002242.4

p.F156I

c.466T>A

17 papers

NM_002242.4

p.R166*

c.496C>T