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.A340Splc

c.1019-38T>C

Surrounding Variants

1 paper

NM_014251.3

p.A340Splc

c.1019-36A>G

1 paper

NM_014251.3

p.A340Splc

c.1019-41A>G

1 paper

NM_014251.3

p.A340Splc

c.1019-43C>A

1 paper

NM_014251.3

p.A340Splc

c.1019-23A>G

1 paper

NM_014251.3

p.A340Splc

c.1019-63A>T

1 paper

NM_014251.3

p.A340Splc

c.1019-6T>C

1 paper

NM_014251.3

p.A340Splc

c.1019-71C>T

1 paper

NM_014251.3

p.A340Splc

c.1019-4T>C

1 paper

NM_014251.3

p.A340Splc

c.1019-2A>T

2 papers

NM_014251.3

p.A340S

c.1018G>T

1 paper

NM_014251.3

p.A340T

c.1018G>A

1 paper

NM_014251.3

p.A340V

c.1019C>T