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

2 papers

NM_014251.3

p.Q357R

c.1070A>G

Surrounding Variants

1 paper

NM_014251.3

p.Q357*

c.1069C>T

1 paper

NM_014251.3

p.M356I

c.1068G>T

1 paper

NM_014251.3

p.M356K

c.1067T>A

1 paper

NM_014251.3

p.N358S

c.1073A>G

1 paper

NM_014251.3

p.Q359E

c.1075C>G

1 paper

NM_014251.3

p.Q359K

c.1075C>A

1 paper

NM_014251.3

p.R355L

c.1064G>T

14 papers

NM_014251.3

p.R355Q

c.1064G>A

1 paper

NM_014251.3

p.Q359R

c.1076A>G

9 papers

NM_014251.3

p.R355*

c.1063C>T

9 papers

NM_014251.3

p.R355G

c.1063C>G

1 paper

NM_014251.3

p.T354T

c.1062T>C