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.D171H

c.511G>C

Surrounding Variants

1 paper

NM_014251.3

p.D171delFs

c.511delC

1 paper

NM_014251.3

p.R170insFs

c.508dupC

2 papers

NM_014251.3

p.R170Q

c.509G>A

1 paper

NM_014251.3

p.R170W

c.508C>T

1 paper

NM_014251.3

p.R170R

c.508C>A

1 paper

NM_014251.3

p.Q169Q

c.507A>G

1 paper

NM_014251.3

p.N172N

c.516T>C

1 paper

NM_014251.3

p.A173S

c.517G>T

1 paper

NM_014251.3

p.Q169*

c.505C>T

1 paper

NM_014251.3

p.V168M

c.502G>A

1 paper

NM_014251.3

p.R174W

c.520A>T

1 paper

NM_014251.3

p.N172_A173del2

c.514_518del6