Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.M161T

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.M161T
c.482T>C
Surrounding Variants
1 paper
NM_022132.5
p.A160A
c.480C>A
1 paper
NM_022132.5
p.A160D
c.479C>A
1 paper
NM_022132.5
p.N163D
c.487A>G
1 paper
NM_022132.5
p.E158D
c.474A>T
1 paper
NM_022132.5
p.Q157Q
c.471A>G
1 paper
NM_022132.5
p.Q157R
c.470A>G
3 papers
NM_022132.5
p.Q157*
c.469C>T
1 paper
NM_022132.5
p.P166P
c.498C>G
1 paper
NM_022132.5
p.A156del1
c.466_467delGCC
6 papers
NM_022132.5
p.C167R
c.499T>C
9 papers
NM_022132.5
p.R155Q
c.464G>A
9 papers
NM_022132.5
p.R155W
c.463C>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."