Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.K151_K152del2

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.K151_K152del2
c.451_455del6
Surrounding Variants
1 paper
NM_022132.5
p.V150M
c.448G>A
1 paper
NM_022132.5
p.V150delFs
c.449_450delTG
1 paper
NM_022132.5
p.K152T
c.455A>C
1 paper
NM_022132.5
p.K152N
c.456A>T
1 paper
NM_022132.5
p.Q153E
c.457C>G
1 paper
NM_022132.5
p.Q153delFs
c.458_459delAA
1 paper
NM_022132.5
p.V148M
c.442G>A
2 papers
NM_022132.5
p.P147fs
c.439_440fs
1 paper
NM_022132.5
p.L154L
c.462A>G
1 paper
NM_022132.5
p.Y146*
c.438C>A
1 paper
NM_022132.5
p.Y146*
c.438C>G
1 paper
NM_022132.5
p.P147del1
c.439_440delCCA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."