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.H259N

c.775C>A

Surrounding Variants

1 paper

NM_001040716.2

p.L258M

c.772C>A

1 paper

NM_001040716.2

p.I257S

c.770T>G

3 papers

NM_001040716.2

p.L260delFs

c.780delC

1 paper

NM_001040716.2

p.N256D

c.766A>G

1 paper

NM_001040716.2

p.G255G

c.765G>C

2 papers

NM_001040716.2

p.R263G

c.787C>G

1 paper

NM_001040716.2

p.N256_E262delFs

c.767_786del20

1 paper

NM_001040716.2

p.R263Q

c.788G>A

2 papers

NM_001040716.2

p.Y254H

c.760T>C

1 paper

NM_001040716.2

p.Q253Q

c.759G>A

5 papers

NM_001040716.2

p.S266A

c.796T>G

1 paper

NM_001040716.2

p.D252H

c.754G>C