Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.L161fs

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.L161fs
c.481_482fs
Surrounding Variants
8 papers
NM_012213.3
p.L161P
c.482T>C
5 papers
NM_012213.3
p.L161delFs
c.481delC
1 paper
NM_012213.3
p.A159fs
c.475_476fs
7 papers
NM_012213.3
p.A159delFs
c.475delG
1 paper
NM_012213.3
p.A166A
c.498C>G
4 papers
NM_012213.3
p.R152S
c.454C>A
1 paper
NM_012213.3
p.P173L
c.518C>T
1 paper
NM_012213.3
p.H142Q
c.426C>A
1 paper
NM_012213.3
p.H142N
c.424C>A
1 paper
NM_012213.3
p.R176_E177Splc
c.528+19T>C
1 paper
NM_012213.3
p.Y137insFs
c.410dupA
1 paper
NM_012213.3
p.P135A
c.403C>G
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