Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.S173insFs

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
10 papers
NM_022132.5
p.S173insFs
c.517dupT
Surrounding Variants
3 papers
NM_022132.5
p.D172fs
c.514_515fs
2 papers
NM_022132.5
p.S173fs
c.517_518fs
5 papers
NM_022132.5
p.S173fs
c.517_518fs
3 papers
NM_022132.5
p.S173insFs
c.518_519insT
5 papers
NM_022132.5
p.S173L
c.518C>T
1 paper
NM_022132.5
p.V171fs
c.511_512fs
1 paper
NM_022132.5
p.V171Splc
c.512-1G>A
4 papers
NM_022132.5
p.R180*
c.538C>T
1 paper
NM_022132.5
p.R180Q
c.539G>A
1 paper
NM_022132.5
p.R180L
c.539G>T
1 paper
NM_022132.5
p.A182delFs
c.544delG
1 paper
NM_022132.5
p.A182fs
c.544_545fs
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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."