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

1–12 of 77 variants

8 papers

NM_001164749.2

p.V304I

c.910G>A

5 papers

NM_001164749.2

p.A552P

c.1654G>C

2 papers

NM_001164749.2

p.G697S

c.2089G>A

2 papers

NM_001164749.2

p.T736T

c.2208C>T

2 papers

NM_001164749.2

p.S754S

c.2262C>G

1 paper

NM_001164749.2

p.M1insFs

c.2dupT

1 paper

NM_001164749.2

p.A2T

c.4G>A

1 paper

NM_001164749.2

p.P6S

c.16C>T

1 paper

NM_001164749.2

p.R17Splc

c.51-18345A>G

1 paper

NM_001164749.2

p.K32T

c.95A>C

1 paper

NM_001164749.2

p.D89N

c.265G>A

1 paper

NM_001164749.2

p.M103I

c.309G>A