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

Selected Variant

5 papers

NM_001040716.2

p.M204L

c.610A>T

Surrounding Variants

1 paper

NM_001040716.2

p.R205S

c.615G>T

1 paper

NM_001040716.2

p.R205S

c.615G>C

2 papers

NM_001040716.2

p.V206L

c.616G>T

2 papers

NM_001040716.2

p.V206L

c.616G>C

1 paper

NM_001040716.2

p.V207L

c.619G>C

1 paper

NM_001040716.2

p.V207del1

c.619_620delCAC

1 paper

NM_001040716.2

p.R205_H208ins1

c.614_622dup9

1 paper

NM_001040716.2

p.G199A

c.596G>C

1 paper

NM_001040716.2

p.H208Q

c.624C>G

1 paper

NM_001040716.2

p.H208Q

c.624C>A

1 paper

NM_001040716.2

p.Y210C

c.629A>G

3 papers

NM_001040716.2

p.A195V

c.584C>T