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.C234S

c.701G>C

Surrounding Variants

1 paper

NM_002242.4

p.C234S

c.700T>A

1 paper

NM_002242.4

p.E233del1

c.697_698delTTC

1 paper

NM_002242.4

p.F236Y

c.707T>A

1 paper

NM_002242.4

p.F237L

c.709T>C

1 paper

NM_002242.4

p.F237L

c.711C>G

1 paper

NM_002242.4

p.F237L

c.711C>A

2 papers

NM_002242.4

p.S230N

c.689G>A

1 paper

NM_002242.4

p.G228C

c.682G>T

15 papers

NM_002242.4

p.L241P

c.722T>C

1 paper

NM_002242.4

p.L241Q

c.722T>A

8 papers

NM_002242.4

p.Q219*

c.655C>T

1 paper

NM_002242.4

p.S250A

c.748T>G