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.N344_F347del4

c.1030_1040del12

Surrounding Variants

1 paper

NM_000282.4

p.N344S

c.1031A>G

1 paper

NM_000282.4

p.S341insFs

c.1022_1023insA

1 paper

NM_000282.4

p.S341insFs

c.1023dupT

1 paper

NM_000282.4

p.V339M

c.1015G>A

1 paper

NM_000282.4

p.E336fs

c.1006_1007fs

1 paper

NM_000282.4

p.E336delFs

c.1006_1007delGA

1 paper

NM_000282.4

p.L354F

c.1060C>T

1 paper

NM_000282.4

p.A332_G333del1

c.996_998delTGG

1 paper

NM_000282.4

p.Q355_V356Splc

c.1065+1G>T

1 paper

NM_000282.4

p.Q355_V356Splc

c.1065+5C>T

1 paper

NM_000282.4

p.Y329N

c.985T>A

1 paper

NM_000282.4

p.L323V

c.967C>G