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.I293V

c.877A>G

Surrounding Variants

1 paper

NM_014251.3

p.I293L

c.877A>C

1 paper

NM_014251.3

p.R292Q

c.875G>A

1 paper

NM_014251.3

p.I293delFs

c.879delA

1 paper

NM_014251.3

p.R292W

c.874C>T

1 paper

NM_014251.3

p.R292G

c.874C>G

1 paper

NM_014251.3

p.R292R

c.874C>A

1 paper

NM_014251.3

p.A294V

c.881C>T

1 paper

NM_014251.3

p.E291E

c.873A>G

1 paper

NM_014251.3

p.A294A

c.882T>C

1 paper

NM_014251.3

p.E291*

c.871G>T

1 paper

NM_014251.3

p.E291K

c.871G>A

1 paper

NM_014251.3

p.P295S

c.883C>T