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

7 papers

NM_000282.4

p.R399Q

c.1196G>A

Surrounding Variants

1 paper

NM_000282.4

p.R399L

c.1196G>T

4 papers

NM_000282.4

p.R399W

c.1195C>T

2 papers

NM_000282.4

p.C398Y

c.1193G>A

3 papers

NM_000282.4

p.C398R

c.1192T>C

1 paper

NM_000282.4

p.E397fs

c.1189_1190fs

1 paper

NM_000282.4

p.V396G

c.1187T>G

1 paper

NM_000282.4

p.E397_C398delFs

c.1190_1193del4

1 paper

NM_000282.4

p.V396fs

c.1186_1187fs

1 paper

NM_000282.4

p.A395A

c.1185A>C

1 paper

NM_000282.4

p.E403G

c.1208A>G

1 paper

NM_000282.4

p.E403_D404Splc

c.1209+1G>T

1 paper

NM_000282.4

p.E403_D404Splc

c.1209+2T>G