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

3 papers

NM_000282.4

p.G379V

c.1136G>T

Surrounding Variants

2 papers

NM_000282.4

p.G379fs

c.1135_1136fs

1 paper

NM_000282.4

p.G379delFs

c.1136delG

5 papers

NM_000282.4

p.Y380*

c.1140C>A

5 papers

NM_000282.4

p.Y380*

c.1140C>G

1 paper

NM_000282.4

p.A377V

c.1130C>T

1 paper

NM_000282.4

p.A377T

c.1129G>A

1 paper

NM_000282.4

p.L382P

c.1145T>C

1 paper

NM_000282.4

p.L382_R383insFs

c.1146_1147insCA

1 paper

NM_000282.4

p.R383fs

c.1147_1148fs

1 paper

NM_000282.4

p.I374S

c.1121T>G

1 paper

NM_000282.4

p.K385R

c.1154A>G

9 papers

NM_000282.4

p.M373K

c.1118T>A