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

1 paper

NM_145201.6

p.R281W

c.841C>T

Surrounding Variants

1 paper

NM_145201.6

p.A276T

c.826G>A

1 paper

NM_145201.6

p.L287L

c.861G>C

1 paper

NM_145201.6

p.E268K

c.802G>A

1 paper

NM_145201.6

p.G267G

c.801C>T

1 paper

NM_145201.6

p.C254R

c.760T>C

1 paper

NM_145201.6

p.W249C

c.747G>T

1 paper

NM_145201.6

p.W249C

c.747G>C

1 paper

NM_145201.6

p.Q247Q

c.741G>A

1 paper

NM_145201.6

p.A231_P238del8

c.691_713del24

1 paper

NM_145201.6

p.A231_P238del0

c.693_713del21

1 paper

NM_145201.6

p.N299S

c.896A>G

1 paper

NM_145201.6

p.G235S

c.703G>A