Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.L483P

MLYCD

145 papers

RefSeq Summary

The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty ac...

Pfam Domains

MCD_Naa 95–190UCSCMalonyl-CoA decarboxylase N-terminal domain
MCDaa 193–457UCSCMalonyl-CoA decarboxylase C-terminal domain

Gene Aliases

HGNC Name

malonyl-CoA decarboxylase

HGNC Alias Symbols

MCD; hMCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012213.3
p.L483P
c.1448T>C
Surrounding Variants
5 papers
NM_012213.3
p.S477F
c.1430C>T
1 paper
NM_012213.3
p.K475R
c.1424A>G
1 paper
NM_012213.3
p.S467C
c.1400C>G
5 papers
NM_012213.3
p.Y456S
c.1367A>C
1 paper
NM_012213.3
p.N453S
c.1358A>G
1 paper
NM_012213.3
p.G443A
c.1328G>C
6 papers
NM_012213.3
p.S440I
c.1319G>T
1 paper
NM_012213.3
p.R432H
c.1295G>A
2 papers
NM_012213.3
p.R432C
c.1294C>T
1 paper
NM_012213.3
p.W431C
c.1293G>C
1 paper
NM_012213.3
p.W431C
c.1293G>T
1 paper
NM_012213.3
p.V429M
c.1285G>A
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