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.G400V

c.1199G>T

Surrounding Variants

2 papers

NM_001040716.2

p.E401K

c.1201G>A

1 paper

NM_001040716.2

p.S399S

c.1197C>T

1 paper

NM_001040716.2

p.R398fs

c.1192_1193fs

1 paper

NM_001040716.2

p.F397L

c.1189T>C

1 paper

NM_001040716.2

p.R406H

c.1217G>A

1 paper

NM_001040716.2

p.I405_L407delFs

c.1215_1219del5

1 paper

NM_001040716.2

p.N409S

c.1226A>G

1 paper

NM_001040716.2

p.A412S

c.1234G>T

1 paper

NM_001040716.2

p.A412A

c.1236C>T

1 paper

NM_001040716.2

p.F413C

c.1238T>G

1 paper

NM_001040716.2

p.Q414*

c.1240C>T

1 paper

NM_001040716.2

p.Q414Q

c.1242A>G