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.L59M

c.175C>A

Surrounding Variants

1 paper

NM_001040716.2

p.L59V

c.175C>G

1 paper

NM_001040716.2

p.L59R

c.176T>G

4 papers

NM_001040716.2

p.E58D

c.174G>C

1 paper

NM_001040716.2

p.E58A

c.173A>C

1 paper

NM_001040716.2

p.E58*

c.172G>T

1 paper

NM_001040716.2

p.E58Q

c.172G>C

1 paper

NM_001040716.2

p.E58K

c.172G>A

1 paper

NM_001040716.2

p.T57T

c.171G>T

2 papers

NM_001040716.2

p.I61F

c.181A>T

1 paper

NM_001040716.2

p.I61V

c.181A>G

1 paper

NM_001040716.2

p.A55_C56del1

c.165_167delCAG

1 paper

NM_001040716.2

p.I61T

c.182T>C