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.A241A

c.723T>G

Surrounding Variants

1 paper

NM_014251.3

p.A241A

c.723T>C

1 paper

NM_014251.3

p.G242C

c.724G>T

1 paper

NM_014251.3

p.L240L

c.720G>A

1 paper

NM_014251.3

p.T243_R244insFs

c.729_730insTT

1 paper

NM_014251.3

p.R244G

c.730A>G

1 paper

NM_014251.3

p.S238N

c.713G>A

1 paper

NM_014251.3

p.K245E

c.733A>G

1 paper

NM_014251.3

p.Y237Y

c.711T>C

1 paper

NM_014251.3

p.D246fs

c.736_737fs

1 paper

NM_014251.3

p.Y237C

c.710A>G

3 papers

NM_014251.3

p.D246delFs

c.736delC

2 papers

NM_014251.3

p.I236M

c.708C>G