Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.R96R

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.R96R
c.288C>T
Surrounding Variants
1 paper
NM_173467.5
p.A94A
c.282C>T
1 paper
NM_173467.5
p.G99C
c.295G>T
1 paper
NM_173467.5
p.Y100*
c.300C>A
1 paper
NM_173467.5
p.G76_Y84del9
c.226_251del27
5 papers
NM_173467.5
p.L81R
c.242T>G
1 paper
NM_173467.5
p.R79H
c.236G>A
1 paper
NM_173467.5
p.L114P
c.341T>C
1 paper
NM_173467.5
p.R79G
c.235C>G
1 paper
NM_173467.5
p.R116H
c.347G>A
1 paper
NM_173467.5
p.G76G
c.228C>T
1 paper
NM_173467.5
p.Q73delFs
c.218delT
2 papers
NM_173467.5
p.Q121K
c.361C>A
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