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

2 papers

NM_001040716.2

p.E276delFs

c.828delC

Surrounding Variants

2 papers

NM_001040716.2

p.E276A

c.827A>C

1 paper

NM_001040716.2

p.V275V

c.825C>T

1 paper

NM_001040716.2

p.P279S

c.835C>T

1 paper

NM_001040716.2

p.P279L

c.836C>T

1 paper

NM_001040716.2

p.A280T

c.838G>A

1 paper

NM_001040716.2

p.H271H

c.813C>T

1 paper

NM_001040716.2

p.H271Q

c.813C>A

1 paper

NM_001040716.2

p.A281delFs

c.842delG

1 paper

NM_001040716.2

p.H271Y

c.811C>T

1 paper

NM_001040716.2

p.I277_L283insFs

c.831_849dup19

4 papers

NM_001040716.2

p.R270W

c.808C>T

2 papers

NM_001040716.2

p.R269Q

c.806G>A