Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G255V

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.G255V
c.764G>T
Surrounding Variants
1 paper
NM_000532.5
p.G255Splc
c.764-2A>G
1 paper
NM_000532.5
p.H258Y
c.772C>T
2 papers
NM_000532.5
p.H258R
c.773A>G
1 paper
NM_000532.5
p.H258Q
c.774C>A
1 paper
NM_000532.5
p.H258Q
c.774C>G
1 paper
NM_000532.5
p.F261delFs
c.782delT
1 paper
NM_000532.5
p.N263D
c.787A>G
2 papers
NM_000532.5
p.D264insFs
c.790_791insG
1 paper
NM_000532.5
p.D264fs
c.790_791fs
3 papers
NM_000532.5
p.D264insFs
c.791_792insG
1 paper
NM_000532.5
p.V265I
c.793G>A
1 paper
NM_000532.5
p.A267D
c.800C>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."