Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A53

SLC25A53

20 papers

Pfam Domains

Mito_carraa 23–108UCSCMitochondrial carrier protein
Mito_carraa 110–207UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 53

HGNC Previous Symbol

MCART6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
1 paper
NM_001012755.5
p.Q13R
c.38A>G
1 paper
NM_001012755.5
p.T16A
c.46A>G
1 paper
NM_001012755.5
p.R17G
c.49C>G
1 paper
NM_001012755.5
p.K50R
c.149A>G
1 paper
NM_001012755.5
p.Y76C
c.227A>G
1 paper
NM_001012755.5
p.Y76*
c.228C>G
1 paper
NM_001012755.5
p.Y76*
c.228C>A
1 paper
NM_001012755.5
p.L95R
c.284T>G
1 paper
NM_001012755.5
p.H116L
c.347A>T
1 paper
NM_001012755.5
p.K159Q
c.475A>C
1 paper
NM_001012755.5
p.W167R
c.499T>C
1 paper
NM_001012755.5
p.W167R
c.499T>A
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