Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Y146N

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.Y146N
c.436T>A
Surrounding Variants
2 papers
NM_022132.5
p.Y146H
c.436T>C
1 paper
NM_022132.5
p.Y146delFs
c.438delC
1 paper
NM_022132.5
p.Y146*
c.438C>A
1 paper
NM_022132.5
p.Y146*
c.438C>G
1 paper
NM_022132.5
p.P147del1
c.439_440delCCA
2 papers
NM_022132.5
p.P147fs
c.439_440fs
1 paper
NM_022132.5
p.Y145H
c.433T>C
1 paper
NM_022132.5
p.V148M
c.442G>A
1 paper
NM_022132.5
p.V150delFs
c.449_450delTG
1 paper
NM_022132.5
p.V150M
c.448G>A
1 paper
NM_022132.5
p.K141N
c.423A>C
1 paper
NM_022132.5
p.K141N
c.423A>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."