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.S523C

c.1567A>T

Surrounding Variants

1 paper

NM_001040716.2

p.T525A

c.1573A>G

1 paper

NM_001040716.2

p.K519E

c.1555A>G

1 paper

NM_001040716.2

p.V518A

c.1553T>C

1 paper

NM_001040716.2

p.P517S

c.1549C>T

1 paper

NM_001040716.2

p.P530L

c.1589C>T

1 paper

NM_001040716.2

p.A531V

c.1592C>T

1 paper

NM_001040716.2

p.V532L

c.1594G>C

1 paper

NM_001040716.2

p.N510K

c.1530C>G

1 paper

NM_001040716.2

p.N510K

c.1530C>A

1 paper

NM_001040716.2

p.G505R

c.1513G>C

1 paper

NM_001040716.2

p.G535Splc

c.1604-1G>C

1 paper

NM_001040716.2

p.G535G

c.1605C>A