Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.F391delFs

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.F391delFs
c.1172_1173delTT
Surrounding Variants
17 papers
NM_000532.5
p.F391insFs
c.1173dupT
1 paper
NM_000532.5
p.T390I
c.1169C>T
1 paper
NM_000532.5
p.F391fs
c.1171_1172fs
2 papers
NM_000532.5
p.F391S
c.1172T>C
1 paper
NM_000532.5
p.V392L
c.1174G>C
3 papers
NM_000532.5
p.V392fs
c.1174_1175fs
2 papers
NM_000532.5
p.V392insFs
c.1174_1175insT
3 papers
NM_000532.5
p.V392fs
c.1174_1175fs
1 paper
NM_000532.5
p.L388H
c.1163T>A
1 paper
NM_000532.5
p.A383V
c.1148C>T
1 paper
NM_000532.5
p.D382E
c.1146T>A
1 paper
NM_000532.5
p.D382E
c.1146T>G
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