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.M81I

c.243G>T

Surrounding Variants

1 paper

NM_002242.4

p.M81I

c.243G>C

1 paper

NM_002242.4

p.M81I

c.243G>A

1 paper

NM_002242.4

p.M81T

c.242T>C

1 paper

NM_002242.4

p.M81L

c.241A>T

1 paper

NM_002242.4

p.M81L

c.241A>C

1 paper

NM_002242.4

p.G83V

c.248G>T

1 paper

NM_002242.4

p.E80*

c.238G>T

1 paper

NM_002242.4

p.E80K

c.238G>A

1 paper

NM_002242.4

p.D90N

c.268G>A

2 papers

NM_002242.4

p.D90G

c.269A>G

1 paper

NM_002242.4

p.A72S

c.214G>T

1 paper

NM_002242.4

p.V70F

c.208G>T