Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A18
Variant:p.V75delFs

SLC25A18

26 papers

Pfam Domains

Mito_carraa 4–97UCSCMitochondrial carrier protein
Mito_carraa 99–214UCSCMitochondrial carrier protein
Mito_carraa 217–304UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 18

HGNC Previous Names

solute carrier family 25 (mitochondrial carrier), member 18; solute carrier family 25 (glutamate carrier), member 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031481.3
p.V75delFs
c.225delC
Surrounding Variants
1 paper
NM_031481.3
p.V75_T76delFs
c.224_227del4
1 paper
NM_031481.3
p.T34I
c.101C>T
1 paper
NM_031481.3
p.N14D
c.40A>G
1 paper
NM_031481.3
p.M1T
c.2T>C
1 paper
NM_031481.3
p.S224_S227del4
c.670_680del12
1 paper
NM_031481.3
p.A238T
c.712G>A
1 paper
NM_031481.3
p.V244I
c.730G>A
1 paper
NM_031481.3
p.L271_W272delFs
c.813_814delCT
1 paper
NM_031481.3
p.S278C
c.833C>G
1 paper
NM_031481.3
p.K282E
c.844A>G
2 papers
NM_031481.3
p.R309H
c.926G>A
1 paper
NM_031481.3
p.R309L
c.926G>T
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