Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.A323A

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.A323A
c.969T>C
Surrounding Variants
1 paper
NM_022132.5
p.A323_N324del2
c.967_971del6
2 papers
NM_022132.5
p.R327W
c.979A>T
2 papers
NM_022132.5
p.G319R
c.955G>A
1 paper
NM_022132.5
p.G319R
c.955G>C
1 paper
NM_022132.5
p.Y318C
c.953A>G
1 paper
NM_022132.5
p.F329C
c.986T>G
1 paper
NM_022132.5
p.L317*
c.950T>A
7 papers
NM_022132.5
p.R332*
c.994C>T
2 papers
NM_022132.5
p.R332Q
c.995G>A
1 paper
NM_022132.5
p.D315_E316del2
c.943_947del6
14 papers
NM_022132.5
p.P310R
c.929C>G
NM_001363147.1
p.P272R
c.815C>G
2 papers
NM_022132.5
p.E305G
c.914A>G
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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."