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

2 papers

NM_002242.4

p.Q141*

c.421C>T

Surrounding Variants

2 papers

NM_002242.4

p.A139S

c.415G>T

3 papers

NM_002242.4

p.L144P

c.431T>C

2 papers

NM_002242.4

p.L146V

c.436C>G

2 papers

NM_002242.4

p.E149Q

c.445G>C

2 papers

NM_002242.4

p.E149D

c.447G>T

2 papers

NM_002242.4

p.E149D

c.447G>C

2 papers

NM_002242.4

p.A150S

c.448G>T

1 paper

NM_002242.4

p.P132T

c.394C>A

1 paper

NM_002242.4

p.G129D

c.386G>A

1 paper

NM_002242.4

p.I152M

c.456C>G

2 papers

NM_002242.4

p.T153S

c.457A>T

13 papers

NM_002242.4

p.T153I

c.458C>T

NM_001172417.1

p.T73I

c.218C>T