Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMNAT2

NMNAT2

58 papers

RefSeq Summary

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other...

Pfam Domains

CTP_transf_likeaa 12–121UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

nicotinamide nucleotide adenylyltransferase 2

HGNC Alias Symbols

KIAA0479; PNAT2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 47 variants

7 papers

chr1:183261260 C>T

NM_015039.4

p.R232Q

c.695G>A

Exome: 0.0% (AC=18, hom=0)Genome: n/a169 overlapping SVs

5 papers

chr1:183290168 G>A

NM_015039.4

p.T94M

c.281C>T

CTP_transf_like

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)169 overlapping SVs

5 papers

chr1:183290157 C>T

NM_015039.4

p.V98M

c.292G>A

CTP_transf_like

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)169 overlapping SVs

4 papers

chr1:183286707 CTG>N

NM_015039.4

p.Q135fs

c.403_404fs

exact variant not in gnomAD168 overlapping SVs

2 papers

chr1:183418198 G>C

NM_015039.4

p.H24D

c.70C>G

CTP_transf_like

exact variant not in gnomAD168 overlapping SVs

2 papers

chr1:183292842 G>A

NM_015039.4

p.R64W

c.190C>T

CTP_transf_like

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)168 overlapping SVs

2 papers

chr1:183292836 G>A

NM_015039.4

p.R66C

c.196C>T

CTP_transf_like

Exome: n/aGenome: 0.0% (AC=0, hom=0)168 overlapping SVs

2 papers

chr1:183292812 C>T

NM_015039.4

p.V74I

c.220G>A

CTP_transf_like

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=7, hom=0)168 overlapping SVs

2 papers

chr1:183290175 A>C

NM_015039.4

p.W92G

c.274T>G

CTP_transf_like

exact variant not in gnomAD169 overlapping SVs

2 papers

chr1:183286773 T>C

NM_015039.4

p.I113V

c.337A>G

CTP_transf_like

Exome: 1.3% (AC=19330, hom=151)Genome: 1.1% (AC=1652, hom=10)168 overlapping SVs

2 papers

chr1:183261054 C>T

NM_015039.4

p.V257M

c.769G>A

exact variant not in gnomAD169 overlapping SVs

2 papers

chr1:183252721 C>T

NM_015039.4

p.G282S

c.844G>A

Exome: 0.0% (AC=4, hom=0)Genome: n/a169 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."