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.Q364*

c.1090C>T

Surrounding Variants

2 papers

NM_001040716.2

p.R363L

c.1088G>T

3 papers

NM_001040716.2

p.R363Q

c.1088G>A

1 paper

NM_001040716.2

p.Q364ins1

c.1091_1092insAGC

3 papers

NM_001040716.2

p.R363W

c.1087C>T

2 papers

NM_001040716.2

p.R363G

c.1087C>G

1 paper

NM_001040716.2

p.G361D

c.1082G>A

1 paper

NM_001040716.2

p.G361S

c.1081G>A

1 paper

NM_001040716.2

p.I367T

c.1100T>C

1 paper

NM_001040716.2

p.D359Y

c.1075G>T

1 paper

NM_001040716.2

p.D359N

c.1075G>A

1 paper

NM_001040716.2

p.I369T

c.1106T>C

7 papers

NM_001040716.2

p.N370S

c.1109A>G