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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMNAT1

NMNAT1

190 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases...

Pfam Domains

CTP_transf_likeaa 12–229UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

nicotinamide nucleotide adenylyltransferase 1

HGNC Previous Symbol

LCA9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 212 variants

74 papers

chr1:9982630 G>A

NM_022787.4

p.E257K

c.769G>A

Exome: 0.1% (AC=1505, hom=1)Genome: 0.1% (AC=124, hom=0)24 overlapping SVs

28 papers

chr1:9982570 C>T

NM_022787.4

p.R237C

c.709C>T

Exome: 0.0% (AC=73, hom=0)Genome: 0.0% (AC=5, hom=0)24 overlapping SVs

26 papers

chr1:9972098 G>A

NM_022787.4

p.V9M

c.25G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a28 overlapping SVs

26 papers

chr1:9975672 C>T

NM_022787.4

p.R66W

c.196C>T

CTP_transf_like

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=3, hom=0)28 overlapping SVs

20 papers

chr1:9982368 G>A

NM_022787.4

p.W169*

c.507G>A

CTP_transf_like

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=17, hom=0)24 overlapping SVs

19 papers

chr1:9982367 G>A

NM_022787.4

p.W169*

c.506G>A

CTP_transf_like

Exome: 0.0% (AC=1, hom=0)Genome: n/a24 overlapping SVs

19 papers

chr1:9982480 C>T

NM_022787.4

p.R207W

c.619C>T

CTP_transf_like

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=6, hom=0)24 overlapping SVs

17 papers

chr1:9982495 G>A

NM_022787.4

p.V212M

c.634G>A

CTP_transf_like

Exome: 0.0% (AC=101, hom=0)Genome: 0.0% (AC=5, hom=0)24 overlapping SVs

16 papers

chr1:9972126 A>G

NM_022787.4

p.N18S

c.53A>G

CTP_transf_like

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

14 papers

chr1:9972110 G>A

NM_022787.4

p.A13T

c.37G>A

CTP_transf_like

Exome: 0.0% (AC=92, hom=0)Genome: 0.1% (AC=82, hom=0)28 overlapping SVs

10 papers

chr1:9975681 A>G

NM_022787.4

p.M69V

c.205A>G

CTP_transf_like

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

9 papers

chr1:9982678 A>G

NM_022787.4

p.N273D

c.817A>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)24 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."