Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.T451S

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.T451S
c.1351A>T
Surrounding Variants
1 paper
NM_000532.5
p.T451fs
c.1351_1352fs
2 papers
NM_000532.5
p.T451I
c.1352C>T
1 paper
NM_000532.5
p.T451insFs
c.1351dupA
3 papers
NM_000532.5
p.N452S
c.1355A>G
2 papers
NM_000532.5
p.Y453insFs
c.1357_1358insT
1 paper
NM_000532.5
p.Y453fs
c.1357_1358fs
1 paper
NM_000532.5
p.Y453C
c.1358A>G
1 paper
NM_000532.5
p.C448_G449insC
c.1342_1346ins3
4 papers
NM_000532.5
p.L447F
c.1339C>T
2 papers
NM_000532.5
p.W455L
c.1364G>T
1 paper
NM_000532.5
p.A458T
c.1372G>A
2 papers
NM_000532.5
p.A458V
c.1373C>T
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