Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.K298fs

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.K298fs
c.892_893fs
Surrounding Variants
1 paper
NM_022132.5
p.Q297_K298delFs
c.891_892delGA
1 paper
NM_022132.5
p.Y296insFs
c.886_887insTA
1 paper
NM_022132.5
p.Y296fs
c.886_887fs
1 paper
NM_022132.5
p.D301N
c.901G>A
1 paper
NM_022132.5
p.D301_V302Splc
c.903+5G>A
2 papers
NM_022132.5
p.R292K
c.875G>A
1 paper
NM_022132.5
p.R292_L294del3
c.874_881del9
1 paper
NM_022132.5
p.V290A
c.869T>C
1 paper
NM_022132.5
p.L286_K289del4
c.856_866del12
1 paper
NM_022132.5
p.L284_H285delFs
c.852_855del4
1 paper
NM_022132.5
p.A283V
c.848C>T
3 papers
NM_022132.5
p.H282R
c.845A>G
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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."