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

10 papers

NM_000282.4

p.G668R

c.2002G>C

Surrounding Variants

17 papers

NM_000282.4

p.G668R

c.2002G>A

1 paper

NM_000282.4

p.G668A

c.2003G>C

1 paper

NM_000282.4

p.P667L

c.2000C>T

1 paper

NM_000282.4

p.P667S

c.1999C>T

2 papers

NM_000282.4

p.M666K

c.1997T>A

1 paper

NM_000282.4

p.V673L

c.2017G>C

1 paper

NM_000282.4

p.A680V

c.2039C>T

3 papers

NM_000282.4

p.A680A

c.2040G>A

1 paper

NM_000282.4

p.N647N

c.1941C>T

1 paper

NM_000282.4

p.R641fs

c.1921_1922fs

1 paper

NM_000282.4

p.T640delFs

c.1919delC

3 papers

NM_000282.4

p.V633_Y634Splc

c.1900-1G>A