Varaico: Literature-Extracted Genetic Variants

PC

1,277 papers

RefSeq Summary

This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is ...

Pfam Domains

Biotin_carb_Naa 36–146UCSCBiotin carboxylase, N-terminal domain

CPSase_L_D2aa 151–360UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

Biotin_carb_Caa 375–483UCSCBiotin carboxylase C-terminal domain

HMGL-likeaa 689–837UCSCHMGL-like

PYC_OADAaa 861–1061UCSCConserved carboxylase domain

Biotin_lipoylaa 1110–1177UCSCBiotin-requiring enzyme

Gene Aliases

HGNC Name

pyruvate carboxylase

HGNC Alias Symbol

PCB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 664 variants

33 papers

NM_001040716.2

p.E632E

c.1896G>A

25 papers

NM_001040716.2

p.K588*

c.1762A>T

9 papers

NM_001040716.2

p.A610T

c.1828G>A

7 papers

NM_001040716.2

p.N370S

c.1109A>G

7 papers

NM_001040716.2

p.R451C

c.1351C>T

5 papers

NM_001040716.2

p.R62C

c.184C>T

5 papers

NM_001040716.2

p.P141T

c.421C>A

5 papers

NM_001040716.2

p.M204L

c.610A>T

5 papers

NM_001040716.2

p.A226V

c.677C>T

5 papers

NM_001040716.2

p.S266A

c.796T>G

5 papers

NM_001040716.2

p.R547R

c.1641A>G

5 papers

NM_001040716.2

p.M616L

c.1846A>T