Varaico: Literature-Extracted Genetic Variants

NPAS4

70 papers

RefSeq Summary

NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physio...

Pfam Domains

bHLH_NPAS4aa 1–54UCSCNPAS4 bHLH domain

PAS_3aa 227–300UCSCPAS fold

Gene Aliases

HGNC Name

neuronal PAS domain protein 4

HGNC Alias Symbols

PASD10; Le-PAS; bHLHe79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178864.4

p.D229N

c.685G>A

Surrounding Variants

1 paper

NM_178864.4

p.A226T

c.676G>A

2 papers

NM_178864.4

p.R220H

c.659G>A

1 paper

NM_178864.4

p.S219N

c.656G>A

1 paper

NM_178864.4

p.S219G

c.655A>G

1 paper

NM_178864.4

p.L214insFs

c.641dupT

1 paper

NM_178864.4

p.A210V

c.629C>T

1 paper

NM_178864.4

p.G208C

c.622G>T

2 papers

NM_178864.4

p.G204D

c.611G>A

2 papers

NM_178864.4

p.G202D

c.605G>A

1 paper

NM_178864.4

p.G202V

c.605G>T

1 paper

NM_178864.4

p.R200H

c.599G>A

1 paper

NM_178864.4

p.P199H

c.596C>A