Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.K5_V6Splc

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.K5_V6Splc
c.15+21G>T
Surrounding Variants
1 paper
NM_014251.3
p.K5_V6Splc
c.15+21G>C
1 paper
NM_014251.3
p.K5_V6Splc
c.15+24G>A
1 paper
NM_014251.3
p.K5_V6Splc
c.15+17G>C
1 paper
NM_014251.3
p.K5_V6Splc
c.15+25G>A
1 paper
NM_014251.3
p.K5_V6Splc
c.15+26G>T
1 paper
NM_014251.3
p.K5_V6Splc
c.15+26G>C
1 paper
NM_014251.3
p.K5_V6Splc
c.15+26G>A
1 paper
NM_014251.3
p.K5_V6Splc
c.15+15G>C
1 paper
NM_014251.3
p.K5_V6Splc
c.15+30G>A
1 paper
NM_014251.3
p.K5_V6Splc
c.15+7G>T
1 paper
NM_014251.3
p.K5_V6Splc
c.15+5C>T
1 paper
NM_014251.3
p.K5insFs
c.15dupG
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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."