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.R553R

c.1659G>A

Surrounding Variants

22 papers

NM_014251.3

p.A554fs

c.1660_1661fs

1 paper

NM_014251.3

p.R553P

c.1658G>C

9 papers

NM_014251.3

p.R553Q

c.1658G>A

2 papers

NM_014251.3

p.A554T

c.1660G>A

1 paper

NM_014251.3

p.R553W

c.1657C>T

14 papers

NM_014251.3

p.A554insFs

c.1660dupG

1 paper

NM_014251.3

p.A554ins4

c.1660_1661ins12

64 papers

NM_014251.3

p.T546_A554insFs

c.1638_1660dup23

NM_001160210.2

p.T547_A555insFs

c.1641_1663dup23

1 paper

NM_014251.3

p.A554ins6

c.1661_1662ins18

1 paper

NM_014251.3

p.A552del1

c.1654_1655delGGC

1 paper

NM_014251.3

p.R547_A554insFs

c.1639_1661dup23

6 papers

NM_014251.3

p.A554fs

c.1660_1661fs