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

93 papers

NM_014251.3

p.G393Splc

c.1177+1G>A

Surrounding Variants

9 papers

NM_014251.3

p.G393S

c.1177G>A

1 paper

NM_014251.3

p.G393Splc

c.1177+5G>A

1 paper

NM_014251.3

p.R392*

c.1174A>T

1 paper

NM_014251.3

p.Y391insFs

c.1173dupT

4 papers

NM_014251.3

p.Y391*

c.1173T>G

4 papers

NM_014251.3

p.Y391*

c.1173T>A

1 paper

NM_014251.3

p.G393Splc

c.1177+7G>A

1 paper

NM_014251.3

p.Y391C

c.1172A>G

1 paper

NM_014251.3

p.G393Splc

c.1177+8C>T

1 paper

NM_014251.3

p.L390L

c.1170G>T

2 papers

NM_014251.3

p.L390R

c.1169T>G

1 paper

NM_014251.3

p.L390Q

c.1169T>A