Varaico: Literature-Extracted Genetic Variants

SLC25A13

425 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyze...

Pfam Domains

Mito_carraa 324–423UCSCMitochondrial carrier protein

Mito_carraa 424–515UCSCMitochondrial carrier protein

Mito_carraa 516–611UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 13

HGNC Previous Symbol

CTLN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014251.3

p.V178V

c.534C>G

Surrounding Variants

1 paper

NM_014251.3

p.V178V

c.534C>T

1 paper

NM_014251.3

p.G176_R177delFs

c.528_531del4

1 paper

NM_014251.3

p.A180S

c.538G>T

1 paper

NM_014251.3

p.A180T

c.538G>A

2 papers

NM_014251.3

p.A180V

c.539C>T

1 paper

NM_014251.3

p.A180insFs

c.539_540insTG

1 paper

NM_014251.3

p.G176G

c.528G>C

4 papers

NM_014251.3

p.G176V

c.527G>T

1 paper

NM_014251.3

p.I181V

c.541A>G

2 papers

NM_014251.3

p.G176R

c.526G>C

2 papers

NM_014251.3

p.G176R

c.526G>A

1 paper

NM_014251.3

p.T175T

c.525T>C