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.Q469H

c.1407G>C

Surrounding Variants

1 paper

NM_178864.4

p.Q469H

c.1407G>T

1 paper

NM_178864.4

p.P472S

c.1414C>T

1 paper

NM_178864.4

p.L455F

c.1363C>T

1 paper

NM_178864.4

p.S453C

c.1357A>T

1 paper

NM_178864.4

p.S493T

c.1477T>A

1 paper

NM_178864.4

p.S493L

c.1478C>T

1 paper

NM_178864.4

p.S496I

c.1487G>T

1 paper

NM_178864.4

p.Q500K

c.1498C>A

1 paper

NM_178864.4

p.P503S

c.1507C>T

2 papers

NM_178864.4

p.G433A

c.1298G>C

1 paper

NM_178864.4

p.S506Y

c.1517C>A

1 paper

NM_178864.4

p.T427fs

c.1279_1280fs