Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A5
Variant:p.N277S

SLC25A5

163 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitoc...

Pfam Domains

Mito_carraa 4–103UCSCMitochondrial carrier protein
Mito_carraa 109–206UCSCMitochondrial carrier protein
Mito_carraa 206–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 5

HGNC Previous Symbol

ANT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001152.5
p.N277S
c.830A>G
Surrounding Variants
1 paper
NM_001152.5
p.A274V
c.821C>T
1 paper
NM_001152.5
p.G273S
c.817G>A
1 paper
NM_001152.5
p.G273R
c.817G>C
2 papers
NM_001152.5
p.M282T
c.845T>C
1 paper
NM_001152.5
p.M282delins
c.845_846delinsCA
2 papers
NM_001152.5
p.M282I
c.846G>A
2 papers
NM_001152.5
p.M282I
c.846G>C
2 papers
NM_001152.5
p.M282I
c.846G>T
3 papers
NM_001152.5
p.F271L
c.813C>A
3 papers
NM_001152.5
p.F271L
c.813C>G
3 papers
NM_001152.5
p.F271L
c.811T>C
1 paper
NM_001152.5
p.F271V
c.811T>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."