Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.I212insFs

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
8 papers
NM_012213.3
p.I212insFs
c.634dupA
Surrounding Variants
1 paper
NM_012213.3
p.I212fs
c.634_635fs
1 paper
NM_012213.3
p.L209F
c.625C>T
5 papers
NM_012213.3
p.S213_E214delFs
c.638_641del4
1 paper
NM_012213.3
p.S213fs
c.637_638fs
2 papers
NM_012213.3
p.E214fs
c.640_641fs
1 paper
NM_012213.3
p.E214Splc
c.641+3A>C
1 paper
NM_012213.3
p.E214Splc
c.641+5G>C
1 paper
NM_012213.3
p.P205T
c.613C>A
1 paper
NM_012213.3
p.R199L
c.596G>T
1 paper
NM_012213.3
p.G193R
c.577G>A
1 paper
NM_012213.3
p.G193R
c.577G>C
1 paper
NM_012213.3
p.F190C
c.569T>G
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