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.S225L

c.674C>T

Surrounding Variants

52 papers

NM_014251.3

p.S225*

c.674C>A

1 paper

NM_014251.3

p.S225S

c.675G>T

1 paper

NM_014251.3

p.S225S

c.675G>A

1 paper

NM_014251.3

p.L226L

c.678C>G

1 paper

NM_014251.3

p.N224D

c.670A>G

1 paper

NM_014251.3

p.G222G

c.666A>C

1 paper

NM_014251.3

p.G222V

c.665G>T

1 paper

NM_014251.3

p.N228S

c.683A>G

1 paper

NM_014251.3

p.N229fs

c.685_686fs

1 paper

NM_014251.3

p.N229D

c.685A>G

2 papers

NM_014251.3

p.N229delFs

c.686delT

1 paper

NM_014251.3

p.F220insFs

c.660dupT