Varaico: Literature-Extracted Genetic Variants

NOS1AP

122 papers

RefSeq Summary

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS...

Pfam Domains

PIDaa 32–175UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

nitric oxide synthase 1 adaptor protein

HGNC Alias Symbols

KIAA0464; CAPON

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014697.3

p.S104N

c.311G>A

Surrounding Variants

1 paper

NM_014697.3

p.S104_K105insFs

c.312_313ins4

1 paper

NM_014697.3

p.M106L

c.316A>C

1 paper

NM_014697.3

p.M106L

c.316A>T

1 paper

NM_014697.3

p.E103insFs

c.307_308ins4

1 paper

NM_014697.3

p.M106insFs

c.317_318ins4

2 papers

NM_014697.3

p.W101delFs

c.301delT

1 paper

NM_014697.3

p.W99*

c.296G>A

1 paper

NM_014697.3

p.W99delFs

c.296delG

1 paper

NM_014697.3

p.D111G

c.332A>G

1 paper

NM_014697.3

p.L92H

c.275T>A

1 paper

NM_014697.3

p.L92insFs

c.275_276ins8