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

2 papers

NM_178864.4

p.E724K

c.2170G>A

Surrounding Variants

1 paper

NM_178864.4

p.P722L

c.2165C>T

1 paper

NM_178864.4

p.W726C

c.2178G>C

1 paper

NM_178864.4

p.S718C

c.2153C>G

1 paper

NM_178864.4

p.D730N

c.2188G>A

1 paper

NM_178864.4

p.D716N

c.2146G>A

1 paper

NM_178864.4

p.V710M

c.2128G>A

2 papers

NM_178864.4

p.T708M

c.2123C>T

1 paper

NM_178864.4

p.N702D

c.2104A>G

1 paper

NM_178864.4

p.S747F

c.2240C>T

1 paper

NM_178864.4

p.D750Y

c.2248G>T

1 paper

NM_178864.4

p.D685G

c.2054A>G

1 paper

NM_178864.4

p.A763T

c.2287G>A