Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.L173*

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.L173*
c.518T>A
Surrounding Variants
1 paper
NM_000532.5
p.L173_A174delFs
c.518_521del4
1 paper
NM_000532.5
p.L173_L181delFs
c.518_543del26
1 paper
NM_000532.5
p.A174T
c.520G>A
1 paper
NM_000532.5
p.G175fs
c.523_524fs
1 paper
NM_000532.5
p.G175D
c.524G>A
1 paper
NM_000532.5
p.E171*
c.511G>T
1 paper
NM_000532.5
p.A177T
c.529G>A
1 paper
NM_000532.5
p.G169E
c.506G>A
3 papers
NM_000532.5
p.D178H
c.532G>C
24 papers
NM_000532.5
p.E168K
c.502G>A
NM_001178014.2
p.E188K
c.562G>A
2 papers
NM_000532.5
p.E168_G169del1
c.503_505delAAG
2 papers
NM_000532.5
p.F180S
c.539T>C
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."