Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Y109H

MCCC2

201 papers

RefSeq Summary

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. ...

Pfam Domains

Carboxyl_transaa 74–558UCSCCarboxyl transferase domain

Gene Aliases

HGNC Name

methylcrotonyl-CoA carboxylase subunit 2

HGNC Alias Symbols

MCCB; MCCCβ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022132.5
p.Y109H
c.325T>C
Surrounding Variants
1 paper
NM_022132.5
p.L108delFs
c.323_324delTA
1 paper
NM_022132.5
p.Y106C
c.317A>G
1 paper
NM_022132.5
p.G105_Y106delFs
c.315_316delTT
2 papers
NM_022132.5
p.G105R
c.313G>C
1 paper
NM_022132.5
p.P115S
c.343C>T
1 paper
NM_022132.5
p.P115_G116delFs
c.344_347del4
1 paper
NM_022132.5
p.G116_G118del3
c.346_353del9
1 paper
NM_022132.5
p.Q102*
c.304C>T
1 paper
NM_022132.5
p.Q102delFs
c.305_306delAG
1 paper
NM_022132.5
p.G116R
c.346G>A
1 paper
NM_022132.5
p.G116R
c.346G>C
1 paper
NM_022132.5
p.G116delFs
c.347_348delGA
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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."