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.A83A

c.249C>A

Surrounding Variants

1 paper

NM_001040716.2

p.Y84F

c.251A>T

1 paper

NM_001040716.2

p.E82D

c.246A>T

1 paper

NM_001040716.2

p.E82V

c.245A>T

1 paper

NM_001040716.2

p.E82G

c.245A>G

1 paper

NM_001040716.2

p.E82A

c.245A>C

1 paper

NM_001040716.2

p.D81A

c.242A>C

1 paper

NM_001040716.2

p.Q70_L85del16

c.208_254del48

1 paper

NM_001040716.2

p.A80A

c.240A>T

1 paper

NM_001040716.2

p.A80T

c.238G>A

1 paper

NM_001040716.2

p.R88C

c.262C>T

1 paper

NM_001040716.2

p.R88G

c.262C>G

1 paper

NM_001040716.2

p.G89S

c.265G>A