Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.R84*

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.R84*
c.250A>T
Surrounding Variants
1 paper
NM_022132.5
p.R84fs
c.250_251fs
1 paper
NM_022132.5
p.E85K
c.253G>A
1 paper
NM_022132.5
p.E85Q
c.253G>C
1 paper
NM_022132.5
p.P83delFs
c.249delC
1 paper
NM_022132.5
p.E85D
c.255A>C
1 paper
NM_022132.5
p.E85D
c.255A>T
1 paper
NM_022132.5
p.L82del1
c.244_245delTTG
1 paper
NM_022132.5
p.R86I
c.257G>T
1 paper
NM_022132.5
p.L81R
c.242T>G
1 paper
NM_022132.5
p.L81fs
c.241_242fs
1 paper
NM_022132.5
p.L90_I91del2
c.268_272del6
1 paper
NM_022132.5
p.R78*
c.232A>T
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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."