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.N671S

c.2012A>G

Surrounding Variants

1 paper

NM_178864.4

p.S670F

c.2009C>T

1 paper

NM_178864.4

p.S675T

c.2023T>A

1 paper

NM_178864.4

p.E666V

c.1997A>T

1 paper

NM_178864.4

p.G676V

c.2027G>T

1 paper

NM_178864.4

p.G664E

c.1991G>A

1 paper

NM_178864.4

p.G678G

c.2034C>G

1 paper

NM_178864.4

p.P679L

c.2036C>T

1 paper

NM_178864.4

p.P680L

c.2039C>T

1 paper

NM_178864.4

p.L662I

c.1984C>A

1 paper

NM_178864.4

p.S683I

c.2048G>T

1 paper

NM_178864.4

p.G658R

c.1972G>A

1 paper

NM_178864.4

p.G658R

c.1972G>C