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.E47A

c.140A>C

Surrounding Variants

2 papers

NM_001040716.2

p.A49T

c.145G>A

2 papers

NM_001040716.2

p.I50F

c.148A>T

1 paper

NM_001040716.2

p.I50V

c.148A>G

1 paper

NM_001040716.2

p.R51S

c.151C>A

1 paper

NM_001040716.2

p.R51H

c.152G>A

1 paper

NM_001040716.2

p.F53L

c.157T>C

1 paper

NM_001040716.2

p.F53L

c.159C>G

1 paper

NM_001040716.2

p.F53L

c.159C>A

2 papers

NM_001040716.2

p.R54R

c.160C>A

1 paper

NM_001040716.2

p.R54P

c.161G>C

1 paper

NM_001040716.2

p.A55T

c.163G>A

1 paper

NM_001040716.2

p.A55_C56del1

c.165_167delCAG