Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.W384C

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
4 papers
NM_012213.3
p.W384C
c.1152G>T
Surrounding Variants
2 papers
NM_012213.3
p.W384C
c.1152G>C
1 paper
NM_012213.3
p.Q386del1
c.1156_1157delCAG
5 papers
NM_012213.3
p.W384_S387del0
c.1151_1159del9
3 papers
NM_012213.3
p.A393_R400del8
c.1177_1199del24
1 paper
NM_012213.3
p.A393V
c.1178C>T
1 paper
NM_012213.3
p.R400_Y407del8
c.1198_1220del24
1 paper
NM_012213.3
p.G369V
c.1106G>T
1 paper
NM_012213.3
p.Y405F
c.1214A>T
1 paper
NM_012213.3
p.S364T
c.1090T>A
1 paper
NM_012213.3
p.Y407insFs
c.1221dupT
1 paper
NM_012213.3
p.Y407*
c.1221T>A
1 paper
NM_012213.3
p.Y407*
c.1221T>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."