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.D543G

c.1628A>G

Surrounding Variants

2 papers

NM_001040716.2

p.D543E

c.1629C>G

2 papers

NM_001040716.2

p.D543E

c.1629C>A

1 paper

NM_001040716.2

p.I544V

c.1630A>G

1 paper

NM_001040716.2

p.R542R

c.1624A>C

1 paper

NM_001040716.2

p.A539S

c.1615G>T

1 paper

NM_001040716.2

p.R547R

c.1641A>T

5 papers

NM_001040716.2

p.R547R

c.1641A>G

1 paper

NM_001040716.2

p.P538S

c.1612C>T

1 paper

NM_001040716.2

p.G535G

c.1605C>A

1 paper

NM_001040716.2

p.G535Splc

c.1604-1G>C

1 paper

NM_001040716.2

p.L565L

c.1693C>T

2 papers

NM_001040716.2

p.T568A

c.1702A>G