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

2 papers

NM_014251.3

p.G299E

c.896G>A

Surrounding Variants

1 paper

NM_014251.3

p.E298E

c.894G>A

1 paper

NM_014251.3

p.T300I

c.899C>T

1 paper

NM_014251.3

p.E298delFs

c.892delC

2 papers

NM_014251.3

p.E298K

c.892G>A

1 paper

NM_014251.3

p.E297E

c.891A>G

3 papers

NM_014251.3

p.E297*

c.889G>T

1 paper

NM_014251.3

p.L296L

c.888G>A

1 paper

NM_014251.3

p.L296V

c.886C>G

1 paper

NM_014251.3

p.P295L

c.884C>T

1 paper

NM_014251.3

p.P295S

c.883C>T

1 paper

NM_014251.3

p.P295A

c.883C>G

1 paper

NM_014251.3

p.A294A

c.882T>C