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

7 papers

NM_001040716.2

p.R451C

c.1351C>T

Surrounding Variants

1 paper

NM_001040716.2

p.V452I

c.1354G>A

1 paper

NM_001040716.2

p.R453*

c.1357C>T

1 paper

NM_001040716.2

p.R453Q

c.1358G>A

1 paper

NM_001040716.2

p.L447_A448insFs

c.1341_1342insC

1 paper

NM_001040716.2

p.V455V

c.1365G>A

1 paper

NM_001040716.2

p.A446D

c.1337C>A

1 paper

NM_001040716.2

p.R445R

c.1333A>C

1 paper

NM_001040716.2

p.K442E

c.1324A>G

1 paper

NM_001040716.2

p.A440V

c.1319C>T

1 paper

NM_001040716.2

p.D435A

c.1304A>C

1 paper

NM_001040716.2

p.K434Q

c.1300A>C

1 paper

NM_001040716.2

p.G433S

c.1297G>A