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.R51H

c.152G>A

Surrounding Variants

1 paper

NM_178864.4

p.G59D

c.176G>A

1 paper

NM_178864.4

p.S38F

c.113C>T

3 papers

NM_178864.4

p.E31K

c.91G>A

1 paper

NM_178864.4

p.Q15K

c.43C>A

2 papers

NM_178864.4

p.R12C

c.34C>T

1 paper

NM_178864.4

p.A8T

c.22G>A

1 paper

NM_178864.4

p.A8S

c.22G>T

1 paper

NM_178864.4

p.G7G

c.21C>A

2 papers

NM_178864.4

p.G59D

c.176G>A

1 paper

NM_178864.4

p.P82H

c.245C>A

1 paper

NM_178864.4

p.G83S

c.247G>A

1 paper

NM_178864.4

p.F84I

c.250T>A