Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.R46G

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.R46G
c.136C>G
Surrounding Variants
1 paper
NM_012213.3
p.R46C
c.136C>T
1 paper
NM_012213.3
p.R45R
c.135C>T
1 paper
NM_012213.3
p.L44M
c.130C>A
2 papers
NM_012213.3
p.E42K
c.124G>A
7 papers
NM_012213.3
p.M40T
c.119T>C
1 paper
NM_012213.3
p.E37G
c.110A>G
4 papers
NM_012213.3
p.K59*
c.175A>T
1 paper
NM_012213.3
p.T60P
c.178A>C
1 paper
NM_012213.3
p.Q31fs
c.91_92fs
1 paper
NM_012213.3
p.P63_S73del11
c.187_218del33
5 papers
NM_012213.3
p.A28_L36delFs
c.84_108del25
6 papers
NM_012213.3
p.G66delFs
c.197delG
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