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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NADSYN1

Variant:p.V86M

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

Selected Variant

1 paper

chr11:71458537 G>A

NM_018161.5

p.V86M

c.256G>A

CN_hydrolase

Exome: 0.0% (AC=582, hom=1)Genome: 0.4% (AC=674, hom=5)34 overlapping SVs

Surrounding Variants

2 papers

chr11:71458513 G>A

NM_018161.5

p.V78I

c.232G>A

CN_hydrolase

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

1 paper

chr11:71458511 C>T

NM_018161.5

p.P77L

c.230C>T

CN_hydrolase

Exome: 0.0% (AC=230, hom=0)Genome: 0.0% (AC=64, 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

1 paper

chr11:71458456 G>A

NM_018161.5

p.E59K

c.175G>A

CN_hydrolase

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:71458455 C>T

NM_018161.5

p.Y58Y

c.174C>T

CN_hydrolase

Exome: 0.0% (AC=36, hom=1)Genome: 0.0% (AC=7, hom=0)34 overlapping SVs

1 paper

chr11:71458445 A>T

NM_018161.5

p.D55V

c.164A>T

CN_hydrolase

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:71458443 G>A

NM_018161.5

p.W54*

c.162G>A

CN_hydrolase

Exome: 0.0% (AC=1, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:71458442 G>A

NM_018161.5

p.W54*

c.161G>A

CN_hydrolase

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:71458428 C>A

NM_018161.5

p.C49*

c.147C>A

CN_hydrolase

exact variant not in gnomAD34 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

1 paper

chr11:71455158 A>C

NM_018161.5

p.E45A

c.134A>C

CN_hydrolase

exact variant not in gnomAD35 overlapping SVs

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