Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.L8M

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
2 papers
NM_012213.3
p.L8M
c.22T>A
Surrounding Variants
1 paper
NM_012213.3
p.G7G
c.21C>G
1 paper
NM_012213.3
p.L8insFs
c.23_24ins13
3 papers
NM_012213.3
p.P6fs
c.16_17fs
4 papers
NM_012213.3
p.L8_R12insFs
c.22_34dup13
5 papers
NM_012213.3
p.G5insFs
c.13_14insG
2 papers
NM_012213.3
p.R12fs
c.34_35fs
7 papers
NM_012213.3
p.G3D
c.8G>A
4 papers
NM_012213.3
p.L13_L14insG
c.37_41ins3
1 paper
NM_012213.3
p.L13insFs
c.38dupT
1 paper
NM_012213.3
p.L14F
c.40C>T
3 papers
NM_012213.3
p.M1K
c.2T>A
1 paper
NM_012213.3
p.M1T
c.2T>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."