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

Selected Variant

1 paper

NM_005746.3

p.Y18del1

c.52_53delGTA

Surrounding Variants

1 paper

NM_005746.3

p.Y18F

c.53A>T

2 papers

NM_005746.3

p.Y18C

c.53A>G

1 paper

NM_005746.3

p.S17del1

c.49_50delGGA

1 paper

NM_005746.3

p.Q25H

c.75A>T

1 paper

NM_005746.3

p.Q25H

c.75A>C

2 papers

NM_005746.3

p.V33G

c.98T>G

1 paper

NM_005746.3

p.T44R

c.131C>G

1 paper

NM_005746.3

p.V52L

c.154G>C

1 paper

NM_005746.3

p.N67N

c.201T>C

1 paper

NM_005746.3

p.L70delFs

c.209delA

1 paper

NM_005746.3

p.K84*

c.250A>T

1 paper

NM_005746.3

p.K84I

c.251A>T