Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.L284_H285delFs

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.L284_H285delFs
c.852_855del4
Surrounding Variants
1 paper
NM_022132.5
p.A283V
c.848C>T
1 paper
NM_022132.5
p.L286_K289del4
c.856_866del12
3 papers
NM_022132.5
p.H282R
c.845A>G
1 paper
NM_022132.5
p.H282D
c.844C>G
1 paper
NM_022132.5
p.H281Y
c.841C>T
1 paper
NM_022132.5
p.D280N
c.838G>A
15 papers
NM_022132.5
p.D280Y
c.838G>T
1 paper
NM_022132.5
p.L278F
c.834G>C
1 paper
NM_022132.5
p.L278F
c.834G>T
1 paper
NM_022132.5
p.V290A
c.869T>C
1 paper
NM_022132.5
p.L278_D279del2
c.832_836del6
1 paper
NM_022132.5
p.R292_L294del3
c.874_881del9
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."