Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.S141_V142Splc

MCAT

204 papers

RefSeq Summary

The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded p...

Pfam Domains

Acyl_transf_1aa 64–359UCSCAcyl transferase domain

Gene Aliases

HGNC Name

malonyl-CoA-acyl carrier protein transacylase

HGNC Alias Symbols

MCT; fabD; FASN2C; NET62; MCT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173467.5
p.S141_V142Splc
c.424-2A>G
Surrounding Variants
2 papers
NM_173467.5
p.I143fs
c.427_428fs
1 paper
NM_173467.5
p.E144_N145del0
c.430_435del6
1 paper
NM_173467.5
p.A148D
c.443C>A
1 paper
NM_173467.5
p.E156Q
c.466G>C
1 paper
NM_173467.5
p.L160V
c.478C>G
1 paper
NM_173467.5
p.L160R
c.479T>G
1 paper
NM_173467.5
p.G164insFs
c.490dupG
1 paper
NM_173467.5
p.E167K
c.499G>A
2 papers
NM_173467.5
p.E167delFs
c.499delC
2 papers
NM_173467.5
p.L135V
c.403C>G
2 papers
NM_173467.5
p.Q121K
c.361C>A
1 paper
NM_173467.5
p.R116H
c.347G>A
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