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.E260G

c.779A>G

Surrounding Variants

1 paper

NM_002242.4

p.E260A

c.779A>C

1 paper

NM_002242.4

p.N261H

c.781A>C

1 paper

NM_002242.4

p.P262T

c.784C>A

2 papers

NM_002242.4

p.V268A

c.803T>C

1 paper

NM_002242.4

p.S250A

c.748T>G

6 papers

NM_002242.4

p.E276A

c.827A>C

15 papers

NM_002242.4

p.L241P

c.722T>C

1 paper

NM_002242.4

p.L241Q

c.722T>A

1 paper

NM_002242.4

p.E280V

c.839A>T

1 paper

NM_002242.4

p.F237L

c.711C>G

1 paper

NM_002242.4

p.F237L

c.711C>A

1 paper

NM_002242.4

p.F237L

c.709T>C