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.P405L

c.1214C>T

Surrounding Variants

1 paper

NM_178864.4

p.E396*

c.1186G>T

1 paper

NM_178864.4

p.P393T

c.1177C>A

1 paper

NM_178864.4

p.R392Q

c.1175G>A

1 paper

NM_178864.4

p.D419N

c.1255G>A

1 paper

NM_178864.4

p.P424L

c.1271C>T

1 paper

NM_178864.4

p.T427fs

c.1279_1280fs

2 papers

NM_178864.4

p.G433A

c.1298G>C

1 paper

NM_178864.4

p.S453C

c.1357A>T

1 paper

NM_178864.4

p.L455F

c.1363C>T

2 papers

NM_178864.4

p.L351I

c.1051C>A

1 paper

NM_178864.4

p.P344A

c.1030C>G

1 paper

NM_178864.4

p.Q469H

c.1407G>C