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

2 papers

NM_001040716.2

p.T568A

c.1702A>G

Surrounding Variants

1 paper

NM_001040716.2

p.T568P

c.1702A>C

3 papers

NM_001040716.2

p.T569A

c.1705A>G

1 paper

NM_001040716.2

p.F570L

c.1710C>G

1 paper

NM_001040716.2

p.L565L

c.1693C>T

1 paper

NM_001040716.2

p.S576A

c.1726T>G

2 papers

NM_001040716.2

p.H574_S576del3

c.1720_1727del9

1 paper

NM_001040716.2

p.R583L

c.1748G>T

1 paper

NM_001040716.2

p.R583P

c.1748G>C

1 paper

NM_001040716.2

p.R583H

c.1748G>A

1 paper

NM_001040716.2

p.D586G

c.1757A>G

2 papers

NM_001040716.2

p.L587insFs

c.1760_1761insT

25 papers

NM_001040716.2

p.K588*

c.1762A>T