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.I544M

c.1632C>G

Surrounding Variants

1 paper

NM_014251.3

p.I544T

c.1631T>C

1 paper

NM_014251.3

p.I544F

c.1630A>T

1 paper

NM_014251.3

p.K545K

c.1635G>A

6 papers

NM_014251.3

p.T546M

c.1637C>T

5 papers

NM_014251.3

p.T546R

c.1637C>G

1 paper

NM_014251.3

p.D542D

c.1626T>C

1 paper

NM_014251.3

p.T546T

c.1638G>A

1 paper

NM_014251.3

p.D542V

c.1625A>T

2 papers

NM_014251.3

p.R547K

c.1640G>A

11 papers

NM_014251.3

p.A541D

c.1622C>A

1 paper

NM_014251.3

p.P540delFs

c.1620delA

1 paper

NM_014251.3

p.P540fs

c.1618_1619fs