Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.A402delFs

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.A402delFs
c.1204delG
Surrounding Variants
4 papers
NM_000532.5
p.A402fs
c.1204_1205fs
1 paper
NM_000532.5
p.A402fs
c.1204_1205fs
1 paper
NM_000532.5
p.T401fs
c.1201_1202fs
1 paper
NM_000532.5
p.Q403*
c.1207C>T
1 paper
NM_000532.5
p.Q403R
c.1208A>G
1 paper
NM_000532.5
p.E404delFs
c.1210delG
2 papers
NM_000532.5
p.E404_G406del3
c.1210_1217del9
3 papers
NM_000532.5
p.G400Splc
c.1199-2A>G
8 papers
NM_000532.5
p.E404K
c.1210G>A
4 papers
NM_000532.5
p.G407delFs
c.1220delG
3 papers
NM_000532.5
p.G406fs
c.1216_1217fs
1 paper
NM_000532.5
p.G406insFs
c.1217_1218insTA
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