Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.Y131Y

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.Y131Y
c.393C>T
Surrounding Variants
3 papers
NM_012213.3
p.Y131*
c.393C>A
7 papers
NM_012213.3
p.Y131*
c.393C>G
5 papers
NM_012213.3
p.Y131_V134delFs
c.393_400del8
2 papers
NM_012213.3
p.L133fs
c.397_398fs
1 paper
NM_012213.3
p.V134_R136delFs
c.400_407del8
1 paper
NM_012213.3
p.V134fs
c.400_401fs
1 paper
NM_012213.3
p.Y131_Y137ins2
c.393_410dup18
1 paper
NM_012213.3
p.P135A
c.403C>G
1 paper
NM_012213.3
p.Y137insFs
c.410dupA
4 papers
NM_012213.3
p.L122P
c.365T>C
1 paper
NM_012213.3
p.L122L
c.364C>T
1 paper
NM_012213.3
p.H142N
c.424C>A
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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."