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.A367T

c.1099G>A

Surrounding Variants

1 paper

NM_145201.6

p.A340V

c.1019C>T

3 papers

NM_145201.6

p.R332C

c.994C>T

1 paper

NM_145201.6

p.G370V

c.1109G>T

1 paper

NM_145201.6

p.L325V

c.973C>G

1 paper

NM_145201.6

p.L324P

c.971T>C

1 paper

NM_145201.6

p.D320D

c.960C>T

1 paper

NM_145201.6

p.T380N

c.1139C>A

1 paper

NM_145201.6

p.T384A

c.1150A>G

1 paper

NM_145201.6

p.R313W

c.937C>T

1 paper

NM_145201.6

p.Y312C

c.935A>G

1 paper

NM_145201.6

p.S390F

c.1169C>T

1 paper

NM_145201.6

p.V394I

c.1180G>A