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.S563S

c.1689C>T

Surrounding Variants

1 paper

NM_001164749.2

p.V557L

c.1669G>C

5 papers

NM_001164749.2

p.A552P

c.1654G>C

1 paper

NM_001164749.2

p.A549V

c.1646C>T

1 paper

NM_001164749.2

p.S583S

c.1749G>A

1 paper

NM_022123.3

p.D552H

c.1654G>C

1 paper

NM_001164749.2

p.S619R

c.1855A>C

1 paper

NM_001164749.2

p.S619R

c.1857C>A

1 paper

NM_001164749.2

p.S619R

c.1857C>G

1 paper

NM_001164749.2

p.K501K

c.1503G>A

1 paper

NM_001164749.2

p.R500R

c.1500G>C

1 paper

NM_001164749.2

p.G487G

c.1461G>C

1 paper

NM_001164749.2

p.D484D

c.1452C>T