Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G246del1

PCCB

330 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a...

Pfam Domains

Carboxyl_transaa 57–537UCSCCarboxyl transferase domain

Gene Aliases

HGNC Name

propionyl-CoA carboxylase subunit beta

HGNC Previous Name

propionyl Coenzyme A carboxylase, beta polypeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000532.5
p.G246del1
c.736_737delGGT
Surrounding Variants
6 papers
NM_000532.5
p.G245S
c.733G>A
1 paper
NM_000532.5
p.E243_L244insFs
c.729_730insTT
1 paper
NM_000532.5
p.G246D
c.737G>A
8 papers
NM_000532.5
p.G246V
c.737G>T
1 paper
NM_000532.5
p.Q241*
c.721C>T
2 papers
NM_000532.5
p.H250Y
c.748C>T
1 paper
NM_000532.5
p.D238V
c.713A>T
2 papers
NM_000532.5
p.N236S
c.707A>G
1 paper
NM_000532.5
p.N236D
c.706A>G
1 paper
NM_000532.5
p.S254P
c.760T>C
2 papers
NM_000532.5
p.T235P
c.703A>C
5 papers
NM_000532.5
p.G255S
c.763G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."