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.A106P

c.316G>C

Surrounding Variants

1 paper

NM_001040716.2

p.A106T

c.316G>A

2 papers

NM_001040716.2

p.K107_E108Splc

c.321+1G>T

1 paper

NM_001040716.2

p.I102S

c.305T>G

1 paper

NM_001040716.2

p.I102V

c.304A>G

1 paper

NM_001040716.2

p.D101N

c.301G>A

1 paper

NM_001040716.2

p.I99S

c.296T>G

1 paper

NM_001040716.2

p.H98Q

c.294C>G

1 paper

NM_001040716.2

p.H98Q

c.294C>A

1 paper

NM_001040716.2

p.H98insFs

c.293_294insC

1 paper

NM_001040716.2

p.H98N

c.292C>A

1 paper

NM_001040716.2

p.L97Q

c.290T>A

1 paper

NM_001040716.2

p.Y96F

c.287A>T