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

1–12 of 135 variants

4 papers

NM_178864.4

p.F147S

c.440T>C

4 papers

NM_178864.4

p.T587M

c.1760C>T

3 papers

NM_178864.4

p.E31K

c.91G>A

3 papers

NM_178864.4

p.R132H

c.395G>A

2 papers

NM_178864.4

p.R12C

c.34C>T

2 papers

NM_178864.4

p.G59D

c.176G>A

2 papers

NM_178864.4

p.V167M

c.499G>A

2 papers

NM_178864.4

p.R170*

c.508C>T

2 papers

NM_178864.4

p.G202D

c.605G>A

2 papers

NM_178864.4

p.G204D

c.611G>A

2 papers

NM_178864.4

p.R220H

c.659G>A

2 papers

NM_178864.4

p.E304Q

c.910G>C