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.Y620H

c.1858T>C

Surrounding Variants

1 paper

NM_001040716.2

p.C622G

c.1864T>G

1 paper

NM_001040716.2

p.R617insFs

c.1849_1850insG

1 paper

NM_001040716.2

p.M616I

c.1848G>A

2 papers

NM_001040716.2

p.M616T

c.1847T>C

5 papers

NM_001040716.2

p.M616L

c.1846A>T

1 paper

NM_001040716.2

p.R626W

c.1876C>T

2 papers

NM_001040716.2

p.R626Q

c.1877G>A

1 paper

NM_001040716.2

p.D613D

c.1839C>T

1 paper

NM_001040716.2

p.E629E

c.1887G>A

9 papers

NM_001040716.2

p.A610T

c.1828G>A

5 papers

NM_001040716.2

p.R631Q

c.1892G>A

1 paper

NM_001040716.2

p.E632K

c.1894G>A