Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Q496H

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
3 papers
NM_022132.5
p.Q496H
c.1488G>C
Surrounding Variants
3 papers
NM_022132.5
p.Q496H
c.1488G>T
1 paper
NM_022132.5
p.Q496_F497Splc
c.1488+1G>A
1 paper
NM_022132.5
p.Q496_F497Splc
c.1488+2T>A
1 paper
NM_022132.5
p.K495N
c.1485G>C
1 paper
NM_022132.5
p.K495N
c.1485G>T
1 paper
NM_022132.5
p.G494R
c.1480G>A
1 paper
NM_022132.5
p.G494R
c.1480G>C
1 paper
NM_022132.5
p.R492W
c.1474C>T
2 papers
NM_022132.5
p.Q489*
c.1465C>T
1 paper
NM_022132.5
p.V481M
c.1441G>A
3 papers
NM_022132.5
p.A478G
c.1433C>G
2 papers
NM_022132.5
p.Q477R
c.1430A>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."