Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.V230A

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.V230A
c.689T>C
Surrounding Variants
1 paper
NM_000532.5
p.D229_V230ins6
c.685_689ins18
19 papers
NM_000532.5
p.P228L
c.683C>T
1 paper
NM_000532.5
p.P228delFs
c.683delC
2 papers
NM_000532.5
p.T226A
c.676A>G
2 papers
NM_000532.5
p.T235P
c.703A>C
1 paper
NM_000532.5
p.N236D
c.706A>G
2 papers
NM_000532.5
p.N236S
c.707A>G
1 paper
NM_000532.5
p.D238V
c.713A>T
1 paper
NM_000532.5
p.Q241*
c.721C>T
1 paper
NM_000532.5
p.D219fs
c.655_656fs
1 paper
NM_000532.5
p.K218_D219Splc
c.655-1G>T
1 paper
NM_000532.5
p.K218_D219Splc
c.655-2A>G
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