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.I236F

c.706A>T

Surrounding Variants

1 paper

NM_014251.3

p.K235N

c.705G>T

1 paper

NM_014251.3

p.K235N

c.705G>C

2 papers

NM_014251.3

p.I236M

c.708C>G

1 paper

NM_014251.3

p.Y237C

c.710A>G

1 paper

NM_014251.3

p.Y237Y

c.711T>C

1 paper

NM_014251.3

p.R234T

c.701G>C

1 paper

NM_014251.3

p.R234G

c.700A>G

1 paper

NM_014251.3

p.I233delFs

c.699delA

1 paper

NM_014251.3

p.S238N

c.713G>A

1 paper

NM_014251.3

p.L232F

c.694C>T

1 paper

NM_014251.3

p.E231D

c.693A>T

1 paper

NM_014251.3

p.E231D

c.693A>C