Varaico: Literature-Extracted Genetic Variants

QPRT

41 papers

RefSeq Summary

This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neu...

Pfam Domains

QRPTase_Caa 30–136UCSCQuinolinate phosphoribosyl transferase, C-terminal domain

QRPTase_Naa 32–112UCSCQuinolinate phosphoribosyl transferase, N-terminal domain

Gene Aliases

HGNC Name

quinolinate phosphoribosyltransferase

HGNC Alias Symbol

QPRTase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014298.6

p.R91R

c.273G>A

Surrounding Variants

1 paper

NM_014298.6

p.R86K

c.257G>A

1 paper

NM_014298.6

p.R86T

c.257G>C

1 paper

NM_014298.6

p.R102Q

c.305G>A

1 paper

NM_014298.6

p.R110L

c.329G>T

2 papers

NM_014298.6

p.S72S

c.216C>T

1 paper

NM_014298.6

p.V71F

c.211G>T

1 paper

NM_014298.6

p.C69C

c.207C>T

1 paper

NM_014298.6

p.P58insFs

c.173_174insA

1 paper

NM_014298.6

p.A45A

c.135G>A

1 paper

NM_014298.6

p.A44V

c.131C>T

1 paper

NM_014298.6

p.S42L

c.125C>T

1 paper

NM_014298.6

p.T141M

c.422C>T