Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2

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
1–12 of 432 variants
38 papers
NM_022132.5
p.V339M
c.1015G>A
26 papers
NM_022132.5
p.E99Q
c.295G>C
15 papers
NM_022132.5
p.D280Y
c.838G>T
13 papers
NM_022132.5
p.P310R
c.929C>G
12 papers
NM_022132.5
p.L355F
c.1065A>T
11 papers
NM_022132.5
p.R72*
c.214C>T
11 papers
NM_022132.5
p.L355F
c.1065A>C
11 papers
NM_022132.5
p.G475R
c.1423G>A
10 papers
NM_022132.5
p.S173insFs
c.517dupT
10 papers
NM_022132.5
p.R525Splc
c.1574+1G>A
9 papers
NM_022132.5
p.R155W
c.463C>T
9 papers
NM_022132.5
p.R155Q
c.464G>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."