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

5 papers

NM_005746.3

p.H191R

c.572A>G

Surrounding Variants

1 paper

NM_005746.3

p.S199F

c.596C>T

1 paper

NM_005746.3

p.S180S

c.540T>A

3 papers

NM_005746.3

p.L176S

c.527T>C

1 paper

NM_005746.3

p.A173D

c.518C>A

3 papers

NM_005746.3

p.S165F

c.494C>T

3 papers

NM_005746.3

p.S165Y

c.494C>A

1 paper

NM_005746.3

p.T160I

c.479C>T

1 paper

NM_005746.3

p.P158A

c.472C>G

1 paper

NM_005746.3

p.Y157*

c.471T>A

2 papers

NM_005746.3

p.L152P

c.455T>C

1 paper

NM_005746.3

p.I151I

c.453T>A

1 paper

NM_005746.3

p.E149_T150Splc

c.448-303T>A