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.M230V

c.688A>G

Surrounding Variants

2 papers

NM_014251.3

p.N229delFs

c.686delT

1 paper

NM_014251.3

p.M230I

c.690G>T

1 paper

NM_014251.3

p.M230I

c.690G>C

1 paper

NM_014251.3

p.M230I

c.690G>A

1 paper

NM_014251.3

p.E231*

c.691G>T

1 paper

NM_014251.3

p.N229fs

c.685_686fs

1 paper

NM_014251.3

p.N229D

c.685A>G

1 paper

NM_014251.3

p.E231D

c.693A>T

1 paper

NM_014251.3

p.N228S

c.683A>G

1 paper

NM_014251.3

p.E231D

c.693A>C

1 paper

NM_014251.3

p.L232F

c.694C>T

1 paper

NM_014251.3

p.L226L

c.678C>G