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.R191C

c.571C>T

Surrounding Variants

2 papers

NM_014251.3

p.R191H

c.572G>A

1 paper

NM_014251.3

p.R191delFs

c.571delG

1 paper

NM_014251.3

p.I190fs

c.568_569fs

1 paper

NM_014251.3

p.I190S

c.569T>G

1 paper

NM_014251.3

p.I190T

c.569T>C

1 paper

NM_014251.3

p.R177_T189del13

c.529_566del39

1 paper

NM_014251.3

p.R191R

c.573C>T

1 paper

NM_014251.3

p.P192T

c.574C>A

1 paper

NM_014251.3

p.I190fs

c.568_569fs

2 papers

NM_014251.3

p.P192L

c.575C>T

1 paper

NM_014251.3

p.T189T

c.567C>T

1 paper

NM_014251.3

p.P192P

c.576C>G