Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.G27R

SLC25A15

157 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is...

Pfam Domains

Mito_carraa 6–96UCSCMitochondrial carrier protein
Mito_carraa 102–202UCSCMitochondrial carrier protein
Mito_carraa 205–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 15

HGNC Previous Symbols

ORNT1; HHH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_014252.4
p.G27R
c.79G>C
Surrounding Variants
12 papers
NM_014252.4
p.G27R
c.79G>A
13 papers
NM_014252.4
p.G27E
c.80G>A
1 paper
NM_014252.4
p.P29R
c.86C>G
1 paper
NM_014252.4
p.F30V
c.88T>G
1 paper
NM_014252.4
p.C23Y
c.68G>A
1 paper
NM_014252.4
p.C23S
c.68G>C
1 paper
NM_014252.4
p.C23S
c.67T>A
1 paper
NM_014252.4
p.T32S
c.94A>T
8 papers
NM_014252.4
p.T32R
c.95C>G
2 papers
NM_014252.4
p.M33insFs
c.97_98insCA
1 paper
NM_014252.4
p.T21K
c.62C>A
1 paper
NM_014252.4
p.M33L
c.97A>C
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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."