Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.G333D

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.G333D
c.998G>A
Surrounding Variants
1 paper
NM_012213.3
p.T335fs
c.1003_1004fs
1 paper
NM_012213.3
p.W337*
c.1011G>A
1 paper
NM_012213.3
p.S327N
c.980G>A
1 paper
NM_012213.3
p.E348D
c.1044G>C
1 paper
NM_012213.3
p.E348D
c.1044G>T
1 paper
NM_012213.3
p.E318fs
c.952_953fs
1 paper
NM_012213.3
p.H349Y
c.1045C>T
1 paper
NM_012213.3
p.R317fs
c.949_950fs
1 paper
NM_012213.3
p.E318delFs
c.953_954delAG
1 paper
NM_012213.3
p.E353insFs
c.1057_1058insA
4 papers
NM_012213.3
p.Q316_R317Splc
c.949-14A>C
7 papers
NM_012213.3
p.Q316_R317Splc
c.949-14A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."