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.E215A

c.644A>C

Surrounding Variants

2 papers

NM_001040716.2

p.E214D

c.642G>T

1 paper

NM_001040716.2

p.E214D

c.642G>C

1 paper

NM_001040716.2

p.L213L

c.639G>A

1 paper

NM_001040716.2

p.Y217F

c.650A>T

1 paper

NM_001040716.2

p.E212D

c.636G>C

1 paper

NM_001040716.2

p.R219insFs

c.656_657insA

2 papers

NM_001040716.2

p.R219Q

c.656G>A

5 papers

NM_001040716.2

p.A226V

c.677C>T

1 paper

NM_001040716.2

p.A226A

c.678C>T

1 paper

NM_001040716.2

p.A227insFs

c.679_680insAG

1 paper

NM_001040716.2

p.A227D

c.680C>A

1 paper

NM_001040716.2

p.G231G

c.693G>A