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.S68A

c.202T>G

Surrounding Variants

1 paper

NM_001040716.2

p.Y67S

c.200A>C

1 paper

NM_001040716.2

p.Q70R

c.209A>G

1 paper

NM_001040716.2

p.Q70Q

c.210G>A

1 paper

NM_001040716.2

p.D71N

c.211G>A

1 paper

NM_001040716.2

p.D71A

c.212A>C

2 papers

NM_001040716.2

p.V64I

c.190G>A

1 paper

NM_001040716.2

p.G73S

c.217G>A

5 papers

NM_001040716.2

p.R62C

c.184C>T

1 paper

NM_001040716.2

p.Q74R

c.221A>G

1 paper

NM_001040716.2

p.I61T

c.182T>C

1 paper

NM_001040716.2

p.I61N

c.182T>A

1 paper

NM_001040716.2

p.Q74fs

c.220_221fs