Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.G66Splc

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.G66Splc
c.197-2A>G
Surrounding Variants
1 paper
NM_022132.5
p.G67fs
c.199_200fs
1 paper
NM_022132.5
p.G68V
c.203G>T
1 paper
NM_022132.5
p.A71T
c.211G>A
1 paper
NM_022132.5
p.R72delFs
c.214delC
1 paper
NM_022132.5
p.R72_A73del2
c.214_218del6
11 papers
NM_022132.5
p.R72*
c.214C>T
1 paper
NM_022132.5
p.A73delFs
c.219delA
1 paper
NM_022132.5
p.H75del1
c.223_224delCAC
1 paper
NM_022132.5
p.H75Y
c.223C>T
1 paper
NM_022132.5
p.S77delFs
c.230_231delCA
1 paper
NM_022132.5
p.R78*
c.232A>T
1 paper
NM_022132.5
p.L81fs
c.241_242fs
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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."