Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A26
Variant:p.V148A

SLC25A26

38 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small mo...

Pfam Domains

Mito_carraa 2–44UCSCMitochondrial carrier protein
Mito_carraa 38–82UCSCMitochondrial carrier protein
Mito_carraa 84–173UCSCMitochondrial carrier protein
Mito_carraa 175–270UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 26

HGNC Alias Symbol

SAMC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001379210.1
p.V148A
c.443T>C
Surrounding Variants
3 papers
NM_001379210.1
p.V148G
c.443T>G
1 paper
NM_001379210.1
p.K145R
c.434A>G
4 papers
NM_001379210.1
p.R142Q
c.425G>A
1 paper
NM_001379210.1
p.R142G
c.424C>G
2 papers
NM_001379210.1
p.E135G
c.404A>G
1 paper
NM_001379210.1
p.Y133insFs
c.398_399ins4
1 paper
NM_001379210.1
p.Y133insFs
c.398_399ins4
1 paper
NM_001379210.1
p.I131insFs
c.391_392ins4
1 paper
NM_001379210.1
p.N130insFs
c.389_390ins4
1 paper
NM_001379210.1
p.N130insFs
c.388_389ins4
1 paper
NM_001379210.1
p.S129_N130insFs
c.387_388ins4
1 paper
NM_001379210.1
p.N130insFs
c.388_389ins4
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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."