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.A163E

c.488C>A

Surrounding Variants

1 paper

NM_014251.3

p.A163T

c.487G>A

1 paper

NM_014251.3

p.H162H

c.486C>T

1 paper

NM_014251.3

p.E161E

c.483G>A

5 papers

NM_014251.3

p.Q165*

c.493C>T

1 paper

NM_014251.3

p.E161Q

c.481G>C

1 paper

NM_014251.3

p.Q165fs

c.493_494fs

5 papers

NM_014251.3

p.Q165delFs

c.495delT

1 paper

NM_014251.3

p.L160P

c.479T>C

4 papers

NM_014251.3

p.L160delFs

c.478delG

2 papers

NM_014251.3

p.L160fs

c.478_479fs

2 papers

NM_014251.3

p.A166A

c.498C>G

1 paper

NM_014251.3

p.F167S

c.500T>C