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

7 papers

NM_014251.3

p.Q592P

c.1775A>C

Surrounding Variants

1 paper

NM_014251.3

p.Q592*

c.1774C>T

1 paper

NM_014251.3

p.F593L

c.1777T>C

1 paper

NM_014251.3

p.F593C

c.1778T>G

1 paper

NM_014251.3

p.P591S

c.1771C>T

1 paper

NM_014251.3

p.G594V

c.1781G>T

4 papers

NM_014251.3

p.G594D

c.1781G>A

1 paper

NM_014251.3

p.V595I

c.1783G>A

4 papers

NM_014251.3

p.S589F

c.1766C>T

1 paper

NM_014251.3

p.G594_V595del2

c.1780_1784del6

2 papers

NM_014251.3

p.R588P

c.1763G>C

15 papers

NM_014251.3

p.R588Q

c.1763G>A

3 papers

NM_014251.3

p.R588*

c.1762C>T