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.T308A

c.922A>G

Surrounding Variants

1 paper

NM_178864.4

p.G305E

c.914G>A

2 papers

NM_178864.4

p.E304Q

c.910G>C

1 paper

NM_178864.4

p.W293R

c.877T>A

1 paper

NM_178864.4

p.W293R

c.877T>C

1 paper

NM_178864.4

p.E279V

c.836A>T

2 papers

NM_178864.4

p.M317L

c.949A>C

1 paper

NM_178864.4

p.M317L

c.949A>T

1 paper

NM_178864.4

p.L322I

c.964C>A

1 paper

NM_178864.4

p.Q332K

c.994C>A

1 paper

NM_178864.4

p.P344A

c.1030C>G

2 papers

NM_178864.4

p.L351I

c.1051C>A

1 paper

NM_178864.4

p.R392Q

c.1175G>A