Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.A182fs

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.A182fs
c.544_545fs
Surrounding Variants
1 paper
NM_022132.5
p.A182delFs
c.544delG
1 paper
NM_022132.5
p.D183H
c.547G>C
1 paper
NM_022132.5
p.R180Q
c.539G>A
1 paper
NM_022132.5
p.R180L
c.539G>T
4 papers
NM_022132.5
p.R180*
c.538C>T
1 paper
NM_022132.5
p.F185_D187Fs
c.554_559delinsTGTGFs
1 paper
NM_022132.5
p.R188G
c.562C>G
2 papers
NM_022132.5
p.R188*
c.562C>T
5 papers
NM_022132.5
p.H190Y
c.568C>T
3 papers
NM_022132.5
p.H190R
c.569A>G
3 papers
NM_022132.5
p.S173insFs
c.518_519insT
5 papers
NM_022132.5
p.S173L
c.518C>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."