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.K251N

c.753G>C

Surrounding Variants

1 paper

NM_014251.3

p.K251N

c.753G>T

1 paper

NM_014251.3

p.K251K

c.753G>A

12 papers

NM_014251.3

p.E252K

c.754G>A

1 paper

NM_014251.3

p.K251E

c.751A>G

1 paper

NM_014251.3

p.T250T

c.750T>C

1 paper

NM_014251.3

p.E252Splc

c.754+4A>G

2 papers

NM_014251.3

p.E252Splc

c.754+6T>G

1 paper

NM_014251.3

p.E248Q

c.742G>C

1 paper

NM_014251.3

p.E248K

c.742G>A

1 paper

NM_014251.3

p.E252Splc

c.754+11A>G

1 paper

NM_014251.3

p.V247F

c.739G>T

3 papers

NM_014251.3

p.D246delFs

c.736delC