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.G217R

c.649G>A

Surrounding Variants

5 papers

NM_005746.3

p.G217R

c.649G>C

4 papers

NM_005746.3

p.G217V

c.650G>T

3 papers

NM_005746.3

p.G217A

c.650G>C

1 paper

NM_005746.3

p.G217E

c.650G>A

1 paper

NM_005746.3

p.D219N

c.655G>A

1 paper

NM_005746.3

p.A222V

c.665C>T

1 paper

NM_005746.3

p.A210V

c.629C>T

1 paper

NM_005746.3

p.L226V

c.676C>G

1 paper

NM_005746.3

p.E202_T203Splc

c.607-1G>T

1 paper

NM_005746.3

p.S199F

c.596C>T

5 papers

NM_005746.3

p.H191R

c.572A>G

1 paper

NM_005746.3

p.S180S

c.540T>A