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

1–12 of 149 variants

35 papers

NM_002242.4

p.R162W

c.484C>T

17 papers

NM_002242.4

p.R166*

c.496C>T

15 papers

NM_002242.4

p.L241P

c.722T>C

14 papers

NM_002242.4

p.R162Q

c.485G>A

13 papers

NM_002242.4

p.W53*

c.158G>A

13 papers

NM_002242.4

p.W53*

c.159G>A

12 papers

NM_002242.4

p.T153I

c.458C>T

11 papers

NM_002242.4

p.M125R

c.374T>G

10 papers

NM_002242.4

p.I120T

c.359T>C

8 papers

NM_002242.4

p.S105I

c.314G>T

8 papers

NM_002242.4

p.T175I

c.524C>T

8 papers

NM_002242.4

p.Q219*

c.655C>T