Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.T271I

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
3 papers
NM_173467.5
p.T271I
c.812C>T
Surrounding Variants
1 paper
NM_173467.5
p.L273F
c.817C>T
1 paper
NM_173467.5
p.A268T
c.802G>A
1 paper
NM_173467.5
p.E275K
c.823G>A
1 paper
NM_173467.5
p.L281fs
c.841_842fs
1 paper
NM_173467.5
p.L281delFs
c.841_842delAG
1 paper
NM_173467.5
p.T282M
c.845C>T
1 paper
NM_173467.5
p.A284_L285delFs
c.851_854del4
1 paper
NM_173467.5
p.S252T
c.754T>A
1 paper
NM_173467.5
p.Q249_K250delFs
c.747_750del4
1 paper
NM_173467.5
p.L248L
c.744C>T
1 paper
NM_173467.5
p.F247C
c.740T>G
4 papers
NM_173467.5
p.A303G
c.908C>G
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