Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.A517V

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
17 papers
NM_001178014.2
p.A517V
c.1550C>T
NM_000532.5
p.A497V
c.1490C>T
Surrounding Variants
10 papers
NM_000532.5
p.R499*
c.1495C>T
2 papers
NM_000532.5
p.G500Splc
c.1498+1G>A
6 papers
NM_000532.5
p.G500Splc
c.1498+2T>C
1 paper
NM_000532.5
p.N492I
c.1475A>T
1 paper
NM_000532.5
p.A491insFs
c.1471dupG
1 paper
NM_000532.5
p.Y486H
c.1456T>C
2 papers
NM_000532.5
p.H476Y
c.1426C>T
1 paper
NM_000532.5
p.K474R
c.1421A>G
2 papers
NM_000532.5
p.A468V
c.1403C>T
2 papers
NM_000532.5
p.A468T
c.1402G>A
2 papers
NM_000532.5
p.A468fs
c.1402_1403fs
2 papers
NM_000532.5
p.G500Splc
c.1499-1G>C
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