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.G129D

c.386G>A

Surrounding Variants

1 paper

NM_002242.4

p.P127S

c.379C>T

1 paper

NM_002242.4

p.P132T

c.394C>A

11 papers

NM_002242.4

p.M125R

c.374T>G

1 paper

NM_002242.4

p.Y122N

c.364T>A

10 papers

NM_002242.4

p.I120T

c.359T>C

2 papers

NM_002242.4

p.A139S

c.415G>T

2 papers

NM_002242.4

p.Q141*

c.421C>T

7 papers

NM_002242.4

p.Q117R

c.350A>G

1 paper

NM_002242.4

p.E115G

c.344A>G

3 papers

NM_002242.4

p.L144P

c.431T>C

1 paper

NM_002242.4

p.L114P

c.341T>C

1 paper

NM_002242.4

p.S113T

c.337T>A