Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Q198*

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
9 papers
NM_022132.5
p.Q198*
c.592C>T
Surrounding Variants
1 paper
NM_022132.5
p.Y196delFs
c.588delT
6 papers
NM_022132.5
p.I200N
c.599T>A
1 paper
NM_022132.5
p.S203delFs
c.607delT
1 paper
NM_022132.5
p.T194_F195del2
c.580_584del6
3 papers
NM_022132.5
p.R193H
c.578G>A
9 papers
NM_022132.5
p.R193C
c.577C>T
1 paper
NM_022132.5
p.K204R
c.611A>G
3 papers
NM_022132.5
p.H190R
c.569A>G
5 papers
NM_022132.5
p.H190Y
c.568C>T
1 paper
NM_022132.5
p.A207T
c.619G>A
1 paper
NM_022132.5
p.R188G
c.562C>G
2 papers
NM_022132.5
p.R188*
c.562C>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."