Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.A135S

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.A135S
c.403G>T
Surrounding Variants
1 paper
NM_022132.5
p.A135V
c.404C>T
1 paper
NM_022132.5
p.A135del1
c.403_404delGCC
1 paper
NM_022132.5
p.I133T
c.398T>C
1 paper
NM_022132.5
p.M132I
c.396G>A
1 paper
NM_022132.5
p.M132I
c.396G>C
1 paper
NM_022132.5
p.M132I
c.396G>T
1 paper
NM_022132.5
p.A138P
c.412G>C
1 paper
NM_022132.5
p.A138A
c.414C>G
1 paper
NM_022132.5
p.C131F
c.392G>T
1 paper
NM_022132.5
p.T139_G143del0
c.416_427del12
2 papers
NM_022132.5
p.T139I
c.416C>T
1 paper
NM_022132.5
p.E130K
c.388G>A
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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."