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.E144*

c.430G>T

Surrounding Variants

1 paper

NM_001040716.2

p.P143L

c.428C>T

1 paper

NM_001040716.2

p.P143R

c.428C>G

3 papers

NM_001040716.2

p.V145A

c.434T>C

5 papers

NM_001040716.2

p.P141T

c.421C>A

1 paper

NM_001040716.2

p.R147H

c.440G>A

1 paper

NM_001040716.2

p.K148M

c.443A>T

1 paper

NM_001040716.2

p.I139T

c.416T>C

1 paper

NM_001040716.2

p.D151N

c.451G>A

1 paper

NM_001040716.2

p.V136_R137insFs

c.408_409insA

1 paper

NM_001040716.2

p.K152E

c.454A>G

1 paper

NM_001040716.2

p.K152Q

c.454A>C

1 paper

NM_001040716.2

p.D151delFs

c.453delG