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.D647N

c.1939G>A

Surrounding Variants

1 paper

NM_178864.4

p.I639V

c.1915A>G

1 paper

NM_178864.4

p.G657G

c.1971C>T

1 paper

NM_178864.4

p.G658R

c.1972G>A

1 paper

NM_178864.4

p.G658R

c.1972G>C

1 paper

NM_178864.4

p.R634H

c.1901G>A

1 paper

NM_178864.4

p.L662I

c.1984C>A

1 paper

NM_178864.4

p.G664E

c.1991G>A

1 paper

NM_178864.4

p.Q629H

c.1887G>C

1 paper

NM_178864.4

p.Q629H

c.1887G>T

1 paper

NM_178864.4

p.E628G

c.1883A>G

1 paper

NM_178864.4

p.E666V

c.1997A>T

1 paper

NM_178864.4

p.E626A

c.1877A>C