Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.F344_F347del4

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.F344_F347del4
c.1030_1040del12
Surrounding Variants
1 paper
NM_022132.5
p.R343*
c.1027A>T
2 papers
NM_022132.5
p.S342N
c.1025G>A
1 paper
NM_022132.5
p.F347_K348del2
c.1039_1043del6
2 papers
NM_022132.5
p.D340V
c.1019A>T
1 paper
NM_022132.5
p.D340delFs
c.1018delG
38 papers
NM_022132.5
p.V339M
c.1015G>A
1 paper
NM_022132.5
p.Y351del1
c.1051_1052delTAT
1 paper
NM_022132.5
p.Y351_D353del3
c.1051_1058del9
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
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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."