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.L38F

c.112C>T

Surrounding Variants

1 paper

NM_002242.4

p.R36_L38insFs

c.107_114dup8

1 paper

NM_002242.4

p.Y40D

c.118T>G

1 paper

NM_002242.4

p.A34A

c.102T>G

1 paper

NM_002242.4

p.R42P

c.125G>C

1 paper

NM_002242.4

p.W45S

c.134G>C

1 paper

NM_002242.4

p.W45*

c.134G>A

1 paper

NM_002242.4

p.G46*

c.136G>T

1 paper

NM_002242.4

p.G46E

c.137G>A

1 paper

NM_002242.4

p.D50G

c.149A>G

1 paper

NM_002242.4

p.M51V

c.151A>G

1 paper

NM_002242.4

p.R52C

c.154C>T

1 paper

NM_002242.4

p.K23N

c.69G>T