Varaico: Literature-Extracted Genetic Variants

NMNAT3

18 papers

RefSeq Summary

This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotin...

Pfam Domains

DTWaa 9–138UCSCDTW domain

CTP_transf_likeaa 10–208UCSCCytidylyltransferase-like

CTP_transf_likeaa 122–302UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

nicotinamide nucleotide adenylyltransferase 3

HGNC Alias Symbol

PNAT3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

2 papers

NM_001401600.1

p.P108S

c.322C>T

1 paper

NM_001401600.1

p.I5L

c.13A>T

1 paper

NM_001401600.1

p.P6R

c.17C>G

1 paper

NM_001401600.1

p.R30*

c.88A>T

1 paper

NM_001401600.1

p.D31E

c.93T>A

1 paper

NM_001401600.1

p.H34Q

c.102C>G

1 paper

NM_001401600.1

p.H34Q

c.102C>A

1 paper

NM_001401600.1

p.D51N

c.151G>A

1 paper

NM_001401600.1

p.S75F

c.224C>T

1 paper

NM_001401600.1

p.A88T

c.262G>A

1 paper

NM_001401600.1

p.T93A

c.277A>G

1 paper

NM_001401600.1

p.S102R

c.306C>G