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.G386S

c.1156G>A

Surrounding Variants

1 paper

NM_014251.3

p.G386R

c.1156G>C

9 papers

NM_014251.3

p.G386V

c.1157G>T

2 papers

NM_014251.3

p.G386D

c.1157G>A

1 paper

NM_014251.3

p.G386G

c.1158C>T

1 paper

NM_014251.3

p.E385*

c.1153G>T

1 paper

NM_014251.3

p.Y384Y

c.1152T>C

1 paper

NM_014251.3

p.Y384F

c.1151A>T

1 paper

NM_014251.3

p.Y384C

c.1151A>G

1 paper

NM_014251.3

p.R383fs

c.1147_1148fs

1 paper

NM_014251.3

p.R383H

c.1148G>A

2 papers

NM_014251.3

p.R383C

c.1147C>T

1 paper

NM_014251.3

p.R383G

c.1147C>G