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

5 papers

NM_000282.4

p.G428_V429Splc

c.1284+1G>A

Surrounding Variants

1 paper

NM_000282.4

p.G428_V429Splc

c.1284+4A>T

6 papers

NM_000282.4

p.P423L

c.1268C>T

2 papers

NM_000282.4

p.Q421P

c.1262A>C

1 paper

NM_000282.4

p.S418F

c.1253C>T

2 papers

NM_000282.4

p.L417W

c.1250T>G

1 paper

NM_000282.4

p.P412P

c.1236A>G

1 paper

NM_000282.4

p.L411_P412del2

c.1231_1235del6

1 paper

NM_000282.4

p.Y406*

c.1218C>A

1 paper

NM_000282.4

p.Y406*

c.1218C>G

1 paper

NM_000282.4

p.D404N

c.1210G>A

1 paper

NM_000282.4

p.D404delFs

c.1210delG

1 paper

NM_000282.4

p.E403_D404Splc

c.1210-7C>G