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.V400G

c.1199T>G

Surrounding Variants

1 paper

NM_145201.6

p.G401W

c.1201G>T

1 paper

NM_145201.6

p.F424fs

c.1270_1271fs

1 paper

NM_145201.6

p.F424delFs

c.1271delA

1 paper

NM_145201.6

p.V394I

c.1180G>A

1 paper

NM_145201.6

p.S390F

c.1169C>T

1 paper

NM_145201.6

p.T384A

c.1150A>G

1 paper

NM_145201.6

p.T380N

c.1139C>A

1 paper

NM_145201.6

p.D436Y

c.1306G>T

1 paper

NM_145201.6

p.G370V

c.1109G>T

1 paper

NM_145201.6

p.Q439L

c.1316A>T

1 paper

NM_145201.6

p.W455C

c.1365G>T

1 paper

NM_145201.6

p.V470G

c.1409T>G