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

Selected Variant

2 papers

NM_145201.6

p.P225A

c.673C>G

Surrounding Variants

1 paper

NM_145201.6

p.P226A

c.676C>G

2 papers

NM_145201.6

p.P228_M229Splc

c.684+1G>A

1 paper

NM_145201.6

p.S220ins4

c.658_659ins12

1 paper

NM_145201.6

p.S218C

c.653C>G

1 paper

NM_145201.6

p.S195N

c.584G>A

1 paper

NM_145201.6

p.S193R

c.579C>G

1 paper

NM_145201.6

p.G189C

c.565G>T

1 paper

NM_145201.6

p.L188L

c.562C>T

1 paper

NM_145201.6

p.Y187C

c.560A>G

1 paper

NM_145201.6

p.L230L

c.690G>A

1 paper

NM_145201.6

p.G175A

c.524G>C

1 paper

NM_145201.6

p.G235S

c.703G>A