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

1 paper

NM_014697.3

p.S195S

c.585A>C

Surrounding Variants

1 paper

NM_014697.3

p.G199Splc

c.595+5G>A

2 papers

NM_014697.3

p.S188S

c.564C>T

1 paper

NM_014697.3

p.G199Splc

c.595+12G>A

1 paper

NM_014697.3

p.G199Splc

c.595+31G>A

1 paper

NM_014697.3

p.T176M

c.527C>T

1 paper

NM_014697.3

p.L171L

c.511C>T

1 paper

NM_014697.3

p.C168Y

c.503G>A

1 paper

NM_014697.3

p.E166G

c.497A>G

1 paper

NM_014697.3

p.V161A

c.482T>C

1 paper

NM_014697.3

p.V161L

c.481G>C

1 paper

NM_014697.3

p.V161L

c.481G>T

1 paper

NM_014697.3

p.V158I

c.472G>A