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.P533L

c.1598C>T

Surrounding Variants

1 paper

NM_178864.4

p.P533S

c.1597C>T

1 paper

NM_178864.4

p.H528L

c.1583A>T

1 paper

NM_178864.4

p.G524C

c.1570G>T

1 paper

NM_178864.4

p.S544N

c.1631G>A

1 paper

NM_178864.4

p.Q547H

c.1641A>C

1 paper

NM_178864.4

p.Q547H

c.1641A>T

1 paper

NM_178864.4

p.F549L

c.1645T>C

1 paper

NM_178864.4

p.F549L

c.1647C>A

1 paper

NM_178864.4

p.F549L

c.1647C>G

1 paper

NM_178864.4

p.T558I

c.1673C>T

1 paper

NM_178864.4

p.S506Y

c.1517C>A

1 paper

NM_178864.4

p.P503S

c.1507C>T