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

3 papers

NM_178864.4

p.R132H

c.395G>A

Surrounding Variants

1 paper

NM_178864.4

p.D121N

c.361G>A

1 paper

NM_178864.4

p.S118N

c.353G>A

1 paper

NM_178864.4

p.A114S

c.340G>T

1 paper

NM_178864.4

p.R145C

c.433C>T

1 paper

NM_178864.4

p.R145H

c.434G>A

4 papers

NM_178864.4

p.F147S

c.440T>C

1 paper

NM_178864.4

p.R150L

c.449G>T

1 paper

NM_178864.4

p.S156F

c.467C>T

1 paper

NM_178864.4

p.R159C

c.475C>T

1 paper

NM_178864.4

p.S161fs

c.481_482fs

1 paper

NM_178864.4

p.A162T

c.484G>A

2 papers

NM_178864.4

p.V167M

c.499G>A