Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A48

SLC25A48

15 papers

Pfam Domains

Mito_carraa 3–91UCSCMitochondrial carrier protein
Mito_carraa 45–156UCSCMitochondrial carrier protein
Mito_carraa 159–252UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 48

HGNC Alias Symbol

FLJ44862

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_001349336.2
p.G23S
c.67G>A
1 paper
NM_001349336.2
p.D27G
c.80A>G
1 paper
NM_001349336.2
p.F64L
c.190T>C
1 paper
NM_001349336.2
p.F64S
c.191T>C
1 paper
NM_001349336.2
p.F64L
c.192C>A
1 paper
NM_001349336.2
p.F64L
c.192C>G
1 paper
NM_001349336.2
p.P99H
c.296C>A
1 paper
NM_001349336.2
p.E154K
c.460G>A
1 paper
NM_001349336.2
p.Y158F
c.473A>T
1 paper
NM_001349336.2
p.G176R
c.526G>A
1 paper
NM_001349336.2
p.G176R
c.526G>C
1 paper
NM_001349336.2
p.R179P
c.536G>C
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