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.G393Splc

c.1177+41C>T

Surrounding Variants

1 paper

NM_014251.3

p.G393Splc

c.1177+43C>T

1 paper

NM_014251.3

p.G393Splc

c.1177+39C>G

1 paper

NM_014251.3

p.G393Splc

c.1177+43C>A

1 paper

NM_014251.3

p.G393Splc

c.1177+44A>G

1 paper

NM_014251.3

p.G393Splc

c.1177+45A>G

1 paper

NM_014251.3

p.G393Splc

c.1177+48G>T

1 paper

NM_014251.3

p.G393Splc

c.1177+48G>A

1 paper

NM_014251.3

p.G393Splc

c.1177+34A>T

1 paper

NM_014251.3

p.G393Splc

c.1177+34A>G

1 paper

NM_014251.3

p.G393Splc

c.1177+18A>G

1 paper

NM_014251.3

p.G393Splc

c.1177+18A>C

4 papers

NM_014251.3

p.G393Splc

c.1177+17C>G