Varaico: Literature-Extracted Genetic Variants

Gene:MCAT

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
1–12 of 82 variants
5 papers
NM_173467.5
p.L81R
c.242T>G
4 papers
NM_173467.5
p.G13D
c.38G>A
4 papers
NM_173467.5
p.A303G
c.908C>G
3 papers
NM_173467.5
p.R212W
c.634C>T
3 papers
NM_173467.5
p.T271I
c.812C>T
3 papers
NM_173467.5
p.E347K
c.1039G>A
2 papers
NM_173467.5
p.Q121K
c.361C>A
2 papers
NM_173467.5
p.L135V
c.403C>G
2 papers
NM_173467.5
p.S141_V142Splc
c.424-2A>G
2 papers
NM_173467.5
p.I143fs
c.427_428fs
2 papers
NM_173467.5
p.E167delFs
c.499delC
2 papers
NM_173467.5
p.H313Y
c.937C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."