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

1–12 of 417 variants

22 papers

NM_000282.4

p.A138T

c.412G>A

18 papers

NM_000282.4

p.R313*

c.937C>T

17 papers

NM_000282.4

p.G668R

c.2002G>A

15 papers

NM_000282.4

p.L308insFs

c.922_923insT

13 papers

NM_000282.4

p.R77W

c.229C>T

10 papers

NM_000282.4

p.W559L

c.1676G>T

10 papers

NM_000282.4

p.G668R

c.2002G>C

9 papers

NM_000282.4

p.M373K

c.1118T>A

8 papers

NM_000282.4

p.R430*

c.1288C>T

7 papers

NM_000282.4

p.A75P

c.223G>C

7 papers

NM_000282.4

p.L308fs

c.922_923fs

7 papers

NM_000282.4

p.R399Q

c.1196G>A