Varaico: Literature-Extracted Genetic Variants

PCCA

221 papers

RefSeq Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PC...

Pfam Domains

Biotin_carb_Naa 62–171UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 176–385UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 397–506UCSCBiotin carboxylase C-terminal domain

PCC_BTaa 525–653UCSCPropionyl-coenzyme A carboxylase BT domain

Biotin_lipoylaa 660–727UCSCBiotin-requiring enzyme

Gene Aliases

HGNC Name

propionyl-CoA carboxylase subunit alpha

HGNC Previous Name

propionyl Coenzyme A carboxylase, alpha polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000282.4

p.S582S

c.1746G>A

Surrounding Variants

2 papers

NM_000282.4

p.S582S

c.1746G>C

1 paper

NM_000282.4

p.S582L

c.1745C>T

1 paper

NM_000282.4

p.S582_V583Splc

c.1746+5G>C

6 papers

NM_000282.4

p.S562*

c.1685C>A

6 papers

NM_000282.4

p.S562*

c.1685C>G

10 papers

NM_000282.4

p.W559L

c.1676G>T

1 paper

NM_000282.4

p.I556I

c.1668A>T

6 papers

NM_000282.4

p.V551F

c.1651G>T

1 paper

NM_000282.4

p.M549fs

c.1645_1646fs

4 papers

NM_000282.4

p.R548Splc

c.1644-6C>G

2 papers

NM_000282.4

p.R548Splc

c.1644-31A>G