Varaico: Literature-Extracted Genetic Variants

NAMPT

126 papers

RefSeq Summary

This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide ade...

Pfam Domains

NAMPT_Naa 10–116UCSCNicotinamide phosphoribosyltransferase, N-terminal domain

NAPRTaseaa 188–466UCSCNicotinate phosphoribosyltransferase (NAPRTase) family

Gene Aliases

HGNC Name

nicotinamide phosphoribosyltransferase

HGNC Previous Symbol

PBEF1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 81 variants

7 papers

NM_005746.3

p.V334G

c.1001T>G

5 papers

NM_005746.3

p.H191R

c.572A>G

5 papers

NM_005746.3

p.G217R

c.649G>C

5 papers

NM_005746.3

p.G217R

c.649G>A

4 papers

NM_005746.3

p.D93del1

c.277_278delATC

4 papers

NM_005746.3

p.G217V

c.650G>T

4 papers

NM_005746.3

p.Q388R

c.1163A>G

3 papers

NM_005746.3

p.S165F

c.494C>T

3 papers

NM_005746.3

p.S165Y

c.494C>A

3 papers

NM_005746.3

p.L176S

c.527T>C

3 papers

NM_005746.3

p.G217A

c.650G>C

2 papers

NM_005746.3

p.Y18C

c.53A>G