Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.A53E

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
1 paper
NM_173467.5
p.A53E
c.158C>A
Surrounding Variants
1 paper
NM_173467.5
p.A52T
c.154G>A
1 paper
NM_173467.5
p.W51L
c.152G>T
1 paper
NM_173467.5
p.P50P
c.150C>T
1 paper
NM_173467.5
p.R57Q
c.170G>A
1 paper
NM_173467.5
p.A49T
c.145G>A
1 paper
NM_173467.5
p.E47A
c.140A>C
1 paper
NM_173467.5
p.G60R
c.178G>C
1 paper
NM_173467.5
p.A45A
c.135G>A
1 paper
NM_173467.5
p.D41Y
c.121G>T
1 paper
NM_173467.5
p.R40L
c.119G>T
1 paper
NM_173467.5
p.G34R
c.100G>C
1 paper
NM_173467.5
p.Q33H
c.99G>C
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