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.V199V

c.597A>G

Surrounding Variants

2 papers

NM_014251.3

p.V199L

c.595G>T

2 papers

NM_014251.3

p.V199L

c.595G>C

1 paper

NM_014251.3

p.F198delFs

c.594delA

1 paper

NM_014251.3

p.F198fs

c.592_593fs

1 paper

NM_014251.3

p.P197H

c.590C>A

1 paper

NM_014251.3

p.P197S

c.589C>T

2 papers

NM_014251.3

p.L203I

c.607C>A

1 paper

NM_014251.3

p.L203L

c.609A>G

1 paper

NM_014251.3

p.C202_L203insFs

c.605_608dup4

1 paper

NM_014251.3

p.V204I

c.610G>A

1 paper

NM_014251.3

p.V204A

c.611T>C

1 paper

NM_014251.3

p.V194V

c.582C>T