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.L129M

c.385C>A

Surrounding Variants

1 paper

NM_145201.6

p.Q123K

c.367C>A

1 paper

NM_145201.6

p.V142L

c.424G>C

1 paper

NM_145201.6

p.V142I

c.424G>A

2 papers

NM_145201.6

p.L114L

c.342C>A

1 paper

NM_145201.6

p.V106M

c.316G>A

1 paper

NM_145201.6

p.S102S

c.306C>G

1 paper

NM_145201.6

p.A98T

c.292G>A

1 paper

NM_145201.6

p.A91A

c.273G>A

1 paper

NM_145201.6

p.P86Q

c.257C>A

1 paper

NM_145201.6

p.V77_L80delFs

c.231_238del8

1 paper

NM_145201.6

p.R156R

c.468C>T

1 paper

NM_145201.6

p.R164W

c.490C>T