Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.G116R

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.G116R
c.346G>C
Surrounding Variants
1 paper
NM_022132.5
p.G116R
c.346G>A
1 paper
NM_022132.5
p.G116delFs
c.347_348delGA
1 paper
NM_022132.5
p.G116_G118del3
c.346_353del9
4 papers
NM_022132.5
p.G117_G118del1
c.351_353delTGG
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.G117delFs
c.351delT
4 papers
NM_022132.5
p.G118del1
c.352_353delGGC
1 paper
NM_022132.5
p.G118R
c.352G>C
1 paper
NM_022132.5
p.I120F
c.358A>T
1 paper
NM_022132.5
p.G122delFs
c.365delG
1 paper
NM_022132.5
p.Y109H
c.325T>C
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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."