Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.V181M

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.V181M
c.541G>A
Surrounding Variants
1 paper
NM_012213.3
p.M185L
c.553A>C
1 paper
NM_012213.3
p.M185L
c.553A>T
1 paper
NM_012213.3
p.M185K
c.554T>A
1 paper
NM_012213.3
p.L186_S187insGTT
c.556_560ins9
1 paper
NM_012213.3
p.M185_S187Fs
c.554_559delinsTGTGFs
3 papers
NM_012213.3
p.S187*
c.560C>A
7 papers
NM_012213.3
p.S187*
c.560C>G
2 papers
NM_012213.3
p.S187L
c.560C>T
1 paper
NM_012213.3
p.R176_E177Splc
c.529-8C>T
1 paper
NM_012213.3
p.F190C
c.569T>G
1 paper
NM_012213.3
p.G193R
c.577G>A
1 paper
NM_012213.3
p.G193R
c.577G>C
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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."