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.M1insFs

c.2_3ins4

Surrounding Variants

1 paper

NM_014251.3

p.M1insFs

c.1dupA

33 papers

NM_014251.3

p.M1T

c.2T>C

2 papers

NM_014251.3

p.M1insFs

c.2_3insT

1 paper

NM_014251.3

p.M1_A2ins1

c.3_4insTTC

1 paper

NM_014251.3

p.M1delins

c.3delinsTTCC

1 paper

NM_014251.3

p.M1L

c.1A>C

2 papers

NM_014251.3

p.M1insFs

c.1_2ins4

1 paper

NM_014251.3

p.A2P

c.4G>C

1 paper

NM_014251.3

p.A2T

c.4G>A

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.A2A

c.6G>T