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.T611I

c.1832C>T

Surrounding Variants

1 paper

NM_178864.4

p.P606A

c.1816C>G

1 paper

NM_178864.4

p.P597S

c.1789C>T

1 paper

NM_178864.4

p.E626A

c.1877A>C

1 paper

NM_178864.4

p.R595W

c.1783C>T

1 paper

NM_178864.4

p.E628G

c.1883A>G

1 paper

NM_178864.4

p.Q629H

c.1887G>C

1 paper

NM_178864.4

p.Q629H

c.1887G>T

2 papers

NM_178864.4

p.A592V

c.1775C>T

1 paper

NM_178864.4

p.R634H

c.1901G>A

1 paper

NM_178864.4

p.L588P

c.1763T>C

4 papers

NM_178864.4

p.T587M

c.1760C>T

1 paper

NM_178864.4

p.I639V

c.1915A>G