Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.A153P

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
6 papers
NM_000532.5
p.A153P
c.457G>C
Surrounding Variants
1 paper
NM_000532.5
p.P154_V155del1
c.462_464delAGT
1 paper
NM_000532.5
p.V151L
c.451G>C
1 paper
NM_000532.5
p.V151L
c.451G>T
1 paper
NM_000532.5
p.V151fs
c.451_452fs
1 paper
NM_000532.5
p.T150R
c.449C>G
1 paper
NM_000532.5
p.T150insFs
c.448_449insC
1 paper
NM_000532.5
p.I156T
c.467T>C
1 paper
NM_000532.5
p.I149_T150Fs
c.446_449delinsCTFs
1 paper
NM_000532.5
p.I149fs
c.445_446fs
1 paper
NM_000532.5
p.A148P
c.442G>C
1 paper
NM_000532.5
p.A148delFs
c.443delC
1 paper
NM_000532.5
p.N159K
c.477T>A
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