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.F639L

c.1915T>C

Surrounding Variants

2 papers

NM_001040716.2

p.P638H

c.1913C>A

2 papers

NM_001040716.2

p.Q640*

c.1918C>T

1 paper

NM_001040716.2

p.G645W

c.1933G>T

1 paper

NM_001040716.2

p.G645R

c.1933G>C

1 paper

NM_001040716.2

p.G645R

c.1933G>A

33 papers

NM_001040716.2

p.E632E

c.1896G>A

1 paper

NM_001040716.2

p.G645G

c.1935G>T

2 papers

NM_001040716.2

p.G645G

c.1935G>A

1 paper

NM_001040716.2

p.E632K

c.1894G>A

2 papers

NM_001040716.2

p.A646delFs

c.1936delC

5 papers

NM_001040716.2

p.R631Q

c.1892G>A

1 paper

NM_001040716.2

p.A646A

c.1938C>T