Varaico: Literature-Extracted Genetic Variants

NPAS1

44 papers

RefSeq Summary

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact f...

Pfam Domains

bHLH_HIF1Aaa 41–105UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 139–204UCSCPAS fold

PAS_3aa 315–402UCSCPAS fold

Gene Aliases

HGNC Name

neuronal PAS domain protein 1

HGNC Alias Symbols

MOP5; PASD5; bHLHe11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002517.4

p.P25H

c.74C>A

Surrounding Variants

1 paper

NM_002517.4

p.G31R

c.91G>A

1 paper

NM_002517.4

p.G11R

c.31G>A

1 paper

NM_002517.4

p.G11R

c.31G>C

1 paper

NM_002517.4

p.L42Q

c.125T>A

1 paper

NM_002517.4

p.S56W

c.167C>G

1 paper

NM_002517.4

p.S56L

c.167C>T

1 paper

NM_002517.4

p.R58C

c.172C>T

1 paper

NM_002517.4

p.S91I

c.272G>T

1 paper

NM_002517.4

p.A102T

c.304G>A

1 paper

NM_002517.4

p.P116L

c.347C>T

1 paper

NM_002517.4

p.A120T

c.358G>A