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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPAS2

Variant:p.R14Q

NPAS2

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific...

Pfam Domains

HLHaa 10–59UCSCHelix-loop-helix DNA-binding domain

PASaa 84–175UCSCPAS fold

PAS_11aa 248–355UCSCPAS domain

Gene Aliases

HGNC Name

neuronal PAS domain protein 2

HGNC Alias Symbols

MOP4; PASD4; bHLHe9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:100925154 G>A

NM_002518.4

p.R14Q

c.41G>A

HLH

exact variant not in gnomAD149 overlapping SVs

Surrounding Variants

1 paper

chr2:100925168 A>C

NM_002518.4

p.K19Q

c.55A>C

HLH

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:100925173 G>A

NM_002518.4

p.K20K

c.60G>A

HLH

Exome: 0.0% (AC=470, hom=0)Genome: 0.0% (AC=34, hom=0)149 overlapping SVs

1 paper

chr2:100925174 C>A

NM_002518.4

p.R21S

c.61C>A

HLH

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:100925229 A>G

NM_002518.4

p.N39S

c.116A>G

HLH

exact variant not in gnomAD149 overlapping SVs

1 paper

chr2:100925292 A>G

NM_002518.4

p.N60S

c.179A>G

Exome: 0.0% (AC=223, hom=0)Genome: 0.0% (AC=19, hom=0)149 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."