Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.P279L

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.P279L
c.836C>T
Surrounding Variants
1 paper
NM_000532.5
p.L280fs
c.838_839fs
2 papers
NM_000532.5
p.L280delFs
c.839delT
8 papers
NM_000532.5
p.L280fs
c.838_839fs
16 papers
NM_000532.5
p.L280insFs
c.838dupC
1 paper
NM_000532.5
p.L280insFs
c.839_840insC
1 paper
NM_000532.5
p.D284_P285delFs
c.852_855del4
1 paper
NM_001178014.2
p.F295del1
c.883_884delTTC
1 paper
NM_000532.5
p.D273insFs
c.819dupT
1 paper
NM_000532.5
p.P285L
c.854C>T
1 paper
NM_000532.5
p.A286_R289del4
c.856_866del12
1 paper
NM_000532.5
p.A286_C291del0
c.857_871del15
9 papers
NM_000532.5
p.R272Q
c.815G>A
NM_001178014.2
p.R292Q
c.875G>A
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