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.D64delFs

c.191delA

Surrounding Variants

1 paper

NM_000282.4

p.K65R

c.194A>G

1 paper

NM_000282.4

p.T62fs

c.184_185fs

1 paper

NM_000282.4

p.K61_T62Splc

c.184-1G>A

1 paper

NM_000282.4

p.G72delFs

c.216delA

7 papers

NM_000282.4

p.A75P

c.223G>C

1 paper

NM_000282.4

p.A75_C76insT

c.223_227ins3

1 paper

NM_000282.4

p.R77ins2

c.229_230ins6

1 paper

NM_000282.4

p.R77insFs

c.229_230ins10

13 papers

NM_000282.4

p.R77W

c.229C>T

2 papers

NM_000282.4

p.R77Q

c.230G>A

1 paper

NM_000282.4

p.R77P

c.230G>C

2 papers

NM_000282.4

p.R77_V78Splc

c.231+1G>A