Varaico: Literature-Extracted Genetic Variants

NAPRT

66 papers

RefSeq Summary

Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and fi...

Pfam Domains

NAPRTase_Naa 16–143UCSCNicotinate phosphoribosyltransferase (NAPRTase) N-terminal domain

NAPRTase_Caa 420–529UCSCNicotinate phosphoribosyltransferase C-terminal domain

Gene Aliases

HGNC Name

nicotinate phosphoribosyltransferase

HGNC Previous Symbol

NAPRT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

3 papers

NM_145201.6

p.R332C

c.994C>T

2 papers

NM_145201.6

p.L56V

c.166T>G

2 papers

NM_145201.6

p.L114L

c.342C>A

2 papers

NM_145201.6

p.P225A

c.673C>G

2 papers

NM_145201.6

p.P228_M229Splc

c.684+1G>A

2 papers

NM_145201.6

p.A367T

c.1099G>A

2 papers

NM_145201.6

p.R475L

c.1424G>T

1 paper

NM_145201.6

p.A32A

c.96G>T

1 paper

NM_145201.6

p.L43F

c.127C>T

1 paper

NM_145201.6

p.R47H

c.140G>A

1 paper

NM_145201.6

p.P49S

c.145C>T

1 paper

NM_145201.6

p.G52R

c.154G>C