Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.P103fs

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.P103fs
c.307_308fs
Surrounding Variants
1 paper
NM_000532.5
p.F102delFs
c.304delT
8 papers
NM_000532.5
p.S106R
c.316A>C
8 papers
NM_000532.5
p.S106R
c.318C>A
8 papers
NM_000532.5
p.S106R
c.318C>G
4 papers
NM_000532.5
p.V107M
c.319G>A
1 paper
NM_000532.5
p.V108I
c.322G>A
13 papers
NM_000532.5
p.R111*
c.331C>T
1 paper
NM_000532.5
p.R111L
c.332G>T
7 papers
NM_000532.5
p.G112D
c.335G>A
16 papers
NM_000532.5
p.R113*
c.337C>T
2 papers
NM_000532.5
p.R113Q
c.338G>A
1 paper
NM_000532.5
p.N115_G116delFs
c.344_347del4
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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."