Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.K433insFs

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
4 papers
NM_000532.5
p.K433insFs
c.1298dupA
Surrounding Variants
2 papers
NM_000532.5
p.K433_A434insFs
c.1299_1300insA
1 paper
NM_000532.5
p.K433_A434Splc
c.1299+1G>C
5 papers
NM_000532.5
p.I430L
c.1288A>C
1 paper
NM_000532.5
p.K433_A434Splc
c.1299+5G>A
32 papers
NM_000532.5
p.T428I
c.1283C>T
1 paper
NM_000532.5
p.T428fs
c.1282_1283fs
1 paper
NM_000532.5
p.V427_T428delFs
c.1281_1282delCA
1 paper
NM_000532.5
p.P425L
c.1274C>T
1 paper
NM_000532.5
p.T423P
c.1267A>C
1 paper
NM_000532.5
p.E421G
c.1262A>G
1 paper
NM_000532.5
p.E421*
c.1261G>T
1 paper
NM_000532.5
p.A420insFs
c.1259_1260insT
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