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.T286delFs

c.858delG

Surrounding Variants

1 paper

NM_014251.3

p.L287V

c.859T>G

1 paper

NM_014251.3

p.L287*

c.860T>G

1 paper

NM_014251.3

p.L287S

c.860T>C

1 paper

NM_014251.3

p.L287*

c.860T>A

1 paper

NM_014251.3

p.A288P

c.862G>C

1 paper

NM_014251.3

p.A288T

c.862G>A

138 papers

NM_014251.3

p.R284_M285delFs

c.852_855del4

1 paper

NM_014251.3

p.R284_M285del2

c.850_854del6

1 paper

NM_014251.3

p.M285I

c.855G>T

7 papers

NM_014251.3

p.M285fs

c.853_854fs

1 paper

NM_014251.3

p.M285I

c.855G>C

1 paper

NM_014251.3

p.M285I

c.855G>A