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.Y559*

c.1677C>A

Surrounding Variants

1 paper

NM_014251.3

p.Y559*

c.1677C>G

1 paper

NM_014251.3

p.S560R

c.1678A>C

2 papers

NM_014251.3

p.S560I

c.1679G>T

1 paper

NM_014251.3

p.S560N

c.1679G>A

1 paper

NM_014251.3

p.S560S

c.1680C>T

1 paper

NM_014251.3

p.S560R

c.1680C>G

1 paper

NM_014251.3

p.S560R

c.1680C>A

1 paper

NM_014251.3

p.G561R

c.1681G>C

1 paper

NM_014251.3

p.G561R

c.1681G>A

1 paper

NM_014251.3

p.T558_S560del3

c.1672_1679del9

1 paper

NM_014251.3

p.T558I

c.1673C>T

1 paper

NM_014251.3

p.G561V

c.1682G>T