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.P192P

c.576C>G

Surrounding Variants

1 paper

NM_014251.3

p.P192P

c.576C>A

2 papers

NM_014251.3

p.P192L

c.575C>T

1 paper

NM_014251.3

p.H193Y

c.577C>T

1 paper

NM_014251.3

p.P192T

c.574C>A

1 paper

NM_014251.3

p.H193L

c.578A>T

1 paper

NM_014251.3

p.H193R

c.578A>G

1 paper

NM_014251.3

p.H193P

c.578A>C

1 paper

NM_014251.3

p.H193insFs

c.577dupC

1 paper

NM_014251.3

p.H193Q

c.579T>G

1 paper

NM_014251.3

p.H193Q

c.579T>A

1 paper

NM_014251.3

p.R191R

c.573C>T

2 papers

NM_014251.3

p.V194I

c.580G>A