Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.N159K

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.N159K
c.477T>G
Surrounding Variants
1 paper
NM_000532.5
p.N159K
c.477T>A
1 paper
NM_000532.5
p.D160G
c.479A>G
1 paper
NM_000532.5
p.S161insFs
c.483dupT
1 paper
NM_000532.5
p.G162R
c.484G>A
1 paper
NM_000532.5
p.G162R
c.484G>C
1 paper
NM_000532.5
p.G162fs
c.484_485fs
1 paper
NM_000532.5
p.G162W
c.484G>T
1 paper
NM_000532.5
p.I156T
c.467T>C
1 paper
NM_000532.5
p.G163G
c.489A>G
17 papers
NM_000532.5
p.R165W
c.493C>T
1 paper
NM_000532.5
p.P154_V155del1
c.462_464delAGT
14 papers
NM_000532.5
p.R165Q
c.494G>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."