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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NADSYN1

NADSYN1

104 papers

RefSeq Summary

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD s...

Pfam Domains

CN_hydrolaseaa 6–283UCSCCarbon-nitrogen hydrolase

NAD_synthaseaa 337–651UCSCNAD synthase

Gene Aliases

HGNC Name

NAD synthetase 1

HGNC Alias Symbol

FLJ10631

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 134 variants

10 papers

chr11:71491856 G>A

NM_018161.5

p.A573T

c.1717G>A

NAD_synthase

Exome: 0.1% (AC=1776, hom=1)Genome: 0.1% (AC=121, hom=0)34 overlapping SVs

6 papers

chr11:71458501 G>C

NM_018161.5

p.V74L

c.220G>C

CN_hydrolase

Exome: 69.4% (AC=1014432, hom=372910)Genome: 58.2% (AC=88479, hom=27972)34 overlapping SVs

6 papers

chr11:71458501 G>T

NM_018161.5

p.V74L

c.220G>T

CN_hydrolase

Exome: 0.0% (AC=0, hom=0)Genome: n/a34 overlapping SVs

6 papers

chr11:71464130 G>T

NM_018161.5

p.W132L

c.395G>T

CN_hydrolase

Exome: 0.0% (AC=170, hom=1)Genome: 0.0% (AC=26, hom=1)35 overlapping SVs

5 papers

chr11:71455169 T>C

NM_018161.5

p.C49R

c.145T>C

CN_hydrolase

Exome: 0.0% (AC=10, hom=0)Genome: n/a35 overlapping SVs

5 papers

chr11:71498472 C>T

NM_018161.5

p.R672*

c.2014C>T

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)34 overlapping SVs

4 papers

chr11:71453382 G>C

NM_018161.5

p.S29Splc

c.85+1G>C

Exome: 0.0% (AC=5, hom=0)Genome: n/a35 overlapping SVs

4 papers

chr11:71473632 A>C

NM_018161.5

p.Q204H

c.612A>C

CN_hydrolase

Exome: 100.0% (AC=1460932, hom=730460)Genome: 100.0% (AC=152333, hom=76165)34 overlapping SVs

4 papers

chr11:71497537 GTG>N

NM_018161.5

p.V607fs

c.1819_1820fs

NAD_synthase

exact variant not in gnomAD34 overlapping SVs

3 papers

chr11:71473632 A>T

NM_018161.5

p.Q204H

c.612A>T

CN_hydrolase

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

3 papers

chr11:71474463 T>A

NM_018161.5

p.C245*

c.735T>A

CN_hydrolase

exact variant not in gnomAD34 overlapping SVs

3 papers

chr11:71480771 C>T

NM_018161.5

p.P297L

c.890C>T

Exome: 6.0% (AC=88219, hom=3393)Genome: 8.3% (AC=12641, hom=630)34 overlapping SVs

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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."