Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.K512T

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.K512T
c.1535A>C
Surrounding Variants
1 paper
NM_022132.5
p.F513S
c.1538T>C
1 paper
NM_022132.5
p.I509_K512del4
c.1525_1535del12
2 papers
NM_022132.5
p.G517R
c.1549G>A
1 paper
NM_022132.5
p.G517R
c.1549G>C
4 papers
NM_022132.5
p.G517_N518insT
c.1549_1553ins3
3 papers
NM_022132.5
p.Y520S
c.1559A>C
3 papers
NM_022132.5
p.Y520C
c.1559A>G
1 paper
NM_022132.5
p.A503V
c.1508C>T
2 papers
NM_022132.5
p.S523G
c.1567A>G
1 paper
NM_022132.5
p.D501V
c.1502A>T
1 paper
NM_022132.5
p.D501N
c.1501G>A
2 papers
NM_022132.5
p.A524T
c.1570G>A
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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."