Varaico: Literature-Extracted Genetic Variants

NPAS3

62 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in n...

Pfam Domains

bHLH_HIF1Aaa 46–113UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 150–228UCSCPAS fold

PAS_3aa 343–430UCSCPAS fold

Gene Aliases

HGNC Name

neuronal PAS domain protein 3

HGNC Alias Symbols

MOP6; PASD6; bHLHe12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001164749.2

p.T867M

c.2600C>T

Surrounding Variants

1 paper

NM_001164749.2

p.P865L

c.2594C>T

1 paper

NM_001164749.2

p.V854M

c.2560G>A

1 paper

NM_001164749.2

p.A848T

c.2542G>A

1 paper

NM_001164749.2

p.L844V

c.2530C>G

1 paper

NM_001164749.2

p.A892V

c.2675C>T

1 paper

NM_001164749.2

p.G921A

c.2762G>C

1 paper

NM_001164749.2

p.G774_G776ins1

c.2322_2327dup6

1 paper

NM_001164749.2

p.G764_G765del0

c.2290_2295del6

2 papers

NM_001164749.2

p.S754S

c.2262C>G

1 paper

NM_001164749.2

p.A743Fs

c.2228delinsCGFs

1 paper

NM_001164749.2

p.P741Fs

c.2222delinsCGFs

2 papers

NM_001164749.2

p.T736T

c.2208C>T