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

2 papers

NM_005746.3

p.N316K

c.948C>A

Surrounding Variants

1 paper

NM_005746.3

p.D313A

c.938A>C

2 papers

NM_005746.3

p.S301S

c.903A>G

1 paper

NM_005746.3

p.K323_V324Splc

c.969+49C>G

1 paper

NM_005746.3

p.I290T

c.869T>C

1 paper

NM_005746.3

p.N285N

c.855T>C

1 paper

NM_005746.3

p.D282N

c.844G>A

1 paper

NM_005746.3

p.S275Y

c.824C>A

1 paper

NM_005746.3

p.S275T

c.823T>A

1 paper

NM_005746.3

p.E263*

c.787G>T

1 paper

NM_005746.3

p.F262F

c.786T>C

1 paper

NM_005746.3

p.S248Splc

c.744-28A>G

7 papers

NM_005746.3

p.V334G

c.1001T>G