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.R174W

c.520A>T

Surrounding Variants

1 paper

NM_014251.3

p.N172_A173del2

c.514_518del6

1 paper

NM_014251.3

p.A173S

c.517G>T

2 papers

NM_014251.3

p.A173_R174del2

c.517_521del6

1 paper

NM_014251.3

p.N172N

c.516T>C

1 paper

NM_014251.3

p.T175T

c.525T>C

2 papers

NM_014251.3

p.G176R

c.526G>C

2 papers

NM_014251.3

p.G176R

c.526G>A

4 papers

NM_014251.3

p.G176V

c.527G>T

1 paper

NM_014251.3

p.G176G

c.528G>C

1 paper

NM_014251.3

p.D171delFs

c.511delC

1 paper

NM_014251.3

p.D171H

c.511G>C

1 paper

NM_014251.3

p.R170insFs

c.508dupC