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.Q137fs

c.409_410fs

Surrounding Variants

1 paper

NM_000282.4

p.Q137_A138delFs

c.411_412delAG

22 papers

NM_000282.4

p.A138T

c.412G>A

1 paper

NM_000282.4

p.A138fs

c.412_413fs

1 paper

NM_000282.4

p.R135S

c.405G>C

1 paper

NM_000282.4

p.R135S

c.405G>T

1 paper

NM_000282.4

p.T134_R135del2

c.400_404del6

1 paper

NM_000282.4

p.A138_V139Splc

c.414+5G>A

1 paper

NM_000282.4

p.A130_I131insAT

c.388_392ins6

1 paper

NM_000282.4

p.A126fs

c.376_377fs

1 paper

NM_000282.4

p.A126delFs

c.376delG

1 paper

NM_000282.4

p.L122_N123delFs

c.364_368del5

1 paper

NM_000282.4

p.Y121C

c.362A>G