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.L428I

c.1282C>A

Surrounding Variants

1 paper

NM_014251.3

p.L428F

c.1282C>T

1 paper

NM_014251.3

p.L428P

c.1283T>C

1 paper

NM_014251.3

p.V426A

c.1277T>C

1 paper

NM_014251.3

p.S425S

c.1275G>A

1 paper

NM_014251.3

p.S425L

c.1274C>T

1 paper

NM_014251.3

p.S425P

c.1273T>C

2 papers

NM_014251.3

p.A429_A430del2

c.1285_1289del6

1 paper

NM_014251.3

p.G424V

c.1271G>T

1 paper

NM_014251.3

p.G424D

c.1271G>A

1 paper

NM_014251.3

p.G424R

c.1270G>C

1 paper

NM_014251.3

p.I432V

c.1294A>G

1 paper

NM_014251.3

p.D423Y

c.1267G>T