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.I435T

c.1304T>C

Surrounding Variants

2 papers

NM_000282.4

p.S433_G434insFs

c.1299_1300insA

2 papers

NM_000282.4

p.V431G

c.1292T>G

8 papers

NM_000282.4

p.R430*

c.1288C>T

1 paper

NM_000282.4

p.G428_V429Splc

c.1285-1G>A

2 papers

NM_000282.4

p.Y444insFs

c.1330dupT

1 paper

NM_000282.4

p.Y444fs

c.1330_1331fs

1 paper

NM_000282.4

p.M448_I449insC

c.1342_1346ins3

1 paper

NM_000282.4

p.K451insFs

c.1351dupA

5 papers

NM_000282.4

p.G428_V429Splc

c.1285-1416A>G

1 paper

NM_000282.4

p.Y455delFs

c.1364_1365delAT

3 papers

NM_000282.4

p.G456V

c.1367G>T

1 paper

NM_000282.4

p.R459_K464insFs

c.1375_1391dup17