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.F220del1

c.658_660delAAA

Surrounding Variants

1 paper

NM_014251.3

p.F220insFs

c.660dupT

1 paper

NM_014251.3

p.F220L

c.660T>G

1 paper

NM_014251.3

p.F220L

c.660T>A

1 paper

NM_014251.3

p.Y219_F220del1

c.656_658delAAT

1 paper

NM_014251.3

p.F220L

c.658T>C

1 paper

NM_014251.3

p.G222V

c.665G>T

1 paper

NM_014251.3

p.G222G

c.666A>C

1 paper

NM_014251.3

p.Y219D

c.655T>G

1 paper

NM_014251.3

p.Y219H

c.655T>C

1 paper

NM_014251.3

p.S218F

c.653C>T

1 paper

NM_014251.3

p.S218C

c.653C>G

1 paper

NM_014251.3

p.S218T

c.652T>A