Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.Y407*

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.Y407*
c.1221T>A
Surrounding Variants
1 paper
NM_012213.3
p.Y407*
c.1221T>G
1 paper
NM_012213.3
p.Y407insFs
c.1221dupT
1 paper
NM_012213.3
p.Y405F
c.1214A>T
1 paper
NM_012213.3
p.R412C
c.1234C>T
1 paper
NM_012213.3
p.R412R
c.1236C>T
1 paper
NM_012213.3
p.G413A
c.1238G>C
1 paper
NM_012213.3
p.R400_Y407del8
c.1198_1220del24
1 paper
NM_012213.3
p.L416Q
c.1247T>A
1 paper
NM_012213.3
p.V419M
c.1255G>A
1 paper
NM_012213.3
p.A393V
c.1178C>T
3 papers
NM_012213.3
p.A393_R400del8
c.1177_1199del24
1 paper
NM_012213.3
p.A428V
c.1283C>T
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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."