Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.G283Splc

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.G283Splc
c.849-18T>A
Surrounding Variants
1 paper
NM_014251.3
p.G283Splc
c.849-20T>G
1 paper
NM_014251.3
p.G283Splc
c.849-16T>A
1 paper
NM_014251.3
p.G283Splc
c.849-24C>T
1 paper
NM_014251.3
p.G283Splc
c.849-24C>G
1 paper
NM_014251.3
p.G283Splc
c.849-25G>T
1 paper
NM_014251.3
p.G283Splc
c.849-9C>G
1 paper
NM_014251.3
p.G283Splc
c.849-28G>C
1 paper
NM_014251.3
p.G283Splc
c.849-28G>A
1 paper
NM_014251.3
p.G283Splc
c.849-8C>T
1 paper
NM_014251.3
p.G283Splc
c.849-7C>T
1 paper
NM_014251.3
p.G283Splc
c.849-6C>G
1 paper
NM_014251.3
p.G283Splc
c.849-4A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."