Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Y351_D353del3

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.Y351_D353del3
c.1051_1058del9
Surrounding Variants
1 paper
NM_022132.5
p.Y351del1
c.1051_1052delTAT
2 papers
NM_022132.5
p.G352delFs
c.1054_1055delGG
8 papers
NM_022132.5
p.G352R
c.1054G>A
6 papers
NM_022132.5
p.G352R
c.1054G>C
1 paper
NM_022132.5
p.G352fs
c.1054_1055fs
1 paper
NM_022132.5
p.G352V
c.1055G>T
1 paper
NM_022132.5
p.T354insFs
c.1060dupA
1 paper
NM_022132.5
p.T354S
c.1060A>T
1 paper
NM_022132.5
p.T354fs
c.1060_1061fs
1 paper
NM_022132.5
p.T354I
c.1061C>T
1 paper
NM_022132.5
p.F347_K348del2
c.1039_1043del6
2 papers
NM_022132.5
p.L355*
c.1064T>A
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