Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.Y435C

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_000532.5
p.Y435C
c.1304A>G
NM_001178014.2
p.Y455C
c.1364A>G
Surrounding Variants
1 paper
NM_000532.5
p.G436R
c.1306G>A
1 paper
NM_000532.5
p.G436R
c.1306G>C
7 papers
NM_000532.5
p.A434V
c.1301C>T
2 papers
NM_000532.5
p.A434fs
c.1300_1301fs
1 paper
NM_000532.5
p.A434fs
c.1300_1301fs
2 papers
NM_000532.5
p.G437S
c.1309G>A
1 paper
NM_000532.5
p.A438delFs
c.1314delC
5 papers
NM_000532.5
p.A438V
c.1313C>T
15 papers
NM_000532.5
p.Y439C
c.1316A>G
2 papers
NM_000532.5
p.K433_A434Splc
c.1300-8T>A
7 papers
NM_000532.5
p.M442T
c.1325T>C
1 paper
NM_000532.5
p.S443N
c.1328G>A
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