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

4 papers

NM_005746.3

p.D93del1

c.277_278delATC

Surrounding Variants

1 paper

NM_005746.3

p.I104delFs

c.312delA

1 paper

NM_005746.3

p.K84I

c.251A>T

1 paper

NM_005746.3

p.K84*

c.250A>T

1 paper

NM_005746.3

p.L70delFs

c.209delA

1 paper

NM_005746.3

p.N67N

c.201T>C

1 paper

NM_005746.3

p.V52L

c.154G>C

1 paper

NM_005746.3

p.T44R

c.131C>G

2 papers

NM_005746.3

p.V33G

c.98T>G

1 paper

NM_005746.3

p.Q25H

c.75A>T

1 paper

NM_005746.3

p.Q25H

c.75A>C

1 paper

NM_005746.3

p.E106_K107Splc

c.319-51G>C

1 paper

NM_005746.3

p.P113S

c.337C>T