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

1 paper

NM_000282.4

p.C111delFs

c.331_332delTG

Surrounding Variants

1 paper

NM_000282.4

p.V112fs

c.334_335fs

1 paper

NM_000282.4

p.D107N

c.319G>A

2 papers

NM_000282.4

p.A106E

c.317C>A

1 paper

NM_000282.4

p.A115_P116delFs

c.344_347del4

1 paper

NM_000282.4

p.M105_A106insFs

c.315_316insT

1 paper

NM_000282.4

p.M105fs

c.313_314fs

1 paper

NM_000282.4

p.V103G

c.308T>G

1 paper

NM_000282.4

p.K119R

c.356A>G

1 paper

NM_000282.4

p.H102delFs

c.305delA

1 paper

NM_000282.4

p.H102fs

c.304_305fs

1 paper

NM_000282.4

p.H102_A106delins

c.304_317delinsGAGGA

1 paper

NM_000282.4

p.S120delFs

c.359_360delGC