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.Y403*

c.1209T>A

Surrounding Variants

1 paper

NM_005746.3

p.Y403*

c.1209T>G

4 papers

NM_005746.3

p.Q388R

c.1163A>G

1 paper

NM_005746.3

p.L387del1

c.1159_1160delTAG

1 paper

NM_005746.3

p.G383del1

c.1147_1148delACC

1 paper

NM_005746.3

p.G381V

c.1142G>T

1 paper

NM_005746.3

p.E363_I364Splc

c.1090-114C>T

1 paper

NM_005746.3

p.P417S

c.1249C>T

1 paper

NM_005746.3

p.P417Q

c.1250C>A

1 paper

NM_005746.3

p.K427R

c.1280A>G

1 paper

NM_005746.3

p.T435M

c.1304C>T

1 paper

NM_005746.3

p.L450delFs

c.1348delG

1 paper

NM_005746.3

p.E451fs

c.1351_1352fs