Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.S195F

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.S195F
c.584C>T
Surrounding Variants
1 paper
NM_173467.5
p.P200A
c.598C>G
1 paper
NM_173467.5
p.K203N
c.609G>T
1 paper
NM_173467.5
p.A185V
c.554C>T
1 paper
NM_173467.5
p.A185T
c.553G>A
1 paper
NM_173467.5
p.Q183*
c.547C>T
1 paper
NM_173467.5
p.C208R
c.622T>C
1 paper
NM_173467.5
p.A181A
c.543C>T
1 paper
NM_173467.5
p.L209F
c.627G>T
1 paper
NM_173467.5
p.L209F
c.627G>C
3 papers
NM_173467.5
p.R212W
c.634C>T
1 paper
NM_173467.5
p.I177I
c.531C>T
1 paper
NM_173467.5
p.V175L
c.523G>C
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