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

1 paper

NM_001040716.2

p.A128D

c.383C>A

Surrounding Variants

1 paper

NM_001040716.2

p.A128V

c.383C>T

1 paper

NM_001040716.2

p.D126G

c.377A>G

1 paper

NM_001040716.2

p.D126N

c.376G>A

1 paper

NM_001040716.2

p.D126fs

c.376_377fs

1 paper

NM_001040716.2

p.C131R

c.391T>C

1 paper

NM_001040716.2

p.R124*

c.370C>T

1 paper

NM_001040716.2

p.E123A

c.368A>C

1 paper

NM_001040716.2

p.E123K

c.367G>A

2 papers

NM_001040716.2

p.A134S

c.400G>T

1 paper

NM_001040716.2

p.A134delFs

c.400delC

1 paper

NM_001040716.2

p.G135R

c.403G>C

1 paper

NM_001040716.2

p.G135R

c.403G>A