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

7 papers

NM_000282.4

p.L308fs

c.922_923fs

Surrounding Variants

2 papers

NM_000282.4

p.L308fs

c.922_923fs

1 paper

NM_000282.4

p.L308*

c.923T>A

2 papers

NM_000282.4

p.L308_D309insFs

c.924_925insT

1 paper

NM_000282.4

p.F307fs

c.919_920fs

15 papers

NM_000282.4

p.L308insFs

c.922_923insT

1 paper

NM_000282.4

p.L308delFs

c.923delT

1 paper

NM_000282.4

p.S305Splc

c.915-1G>A

1 paper

NM_000282.4

p.S305Splc

c.915-1G>C

1 paper

NM_000282.4

p.T312insFs

c.936dupT

18 papers

NM_000282.4

p.R313*

c.937C>T

1 paper

NM_000282.4

p.R313fs

c.937_938fs

1 paper

NM_000282.4

p.A315_M316insT

c.943_947ins3