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.A3T

c.7G>A

Surrounding Variants

1 paper

NM_014251.3

p.A3insFs

c.7_8insAA

1 paper

NM_014251.3

p.A2A

c.6G>T

1 paper

NM_014251.3

p.A2insFs

c.5dupC

1 paper

NM_014251.3

p.A2insFs

c.6dupG

5 papers

NM_014251.3

p.A2insFs

c.4dupG

1 paper

NM_014251.3

p.A2insFs

c.4_5ins10

1 paper

NM_014251.3

p.A4S

c.10G>T

1 paper

NM_014251.3

p.A3insFs

c.8dupC

1 paper

NM_014251.3

p.A3ins1

c.8_9insCCA

1 paper

NM_014251.3

p.A2P

c.4G>C

1 paper

NM_014251.3

p.A4T

c.10G>A

1 paper

NM_014251.3

p.A2T

c.4G>A