Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.S360delFs

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.S360delFs
c.1079delC
Surrounding Variants
1 paper
NM_173467.5
p.S360del1
c.1078_1079delGCT
1 paper
NM_173467.5
p.Y369F
c.1106A>T
3 papers
NM_173467.5
p.E347K
c.1039G>A
1 paper
NM_173467.5
p.K338R
c.1013A>G
1 paper
NM_173467.5
p.D384N
c.1150G>A
2 papers
NM_173467.5
p.Q328*
c.982C>T
1 paper
NM_173467.5
p.L320insFs
c.958dupC
2 papers
NM_173467.5
p.H313Y
c.937C>T
4 papers
NM_173467.5
p.A303G
c.908C>G
1 paper
NM_173467.5
p.A284_L285delFs
c.851_854del4
1 paper
NM_173467.5
p.T282M
c.845C>T
1 paper
NM_173467.5
p.L281fs
c.841_842fs
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