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

3 papers

NM_014697.3

p.C143Y

c.428G>A

Surrounding Variants

1 paper

NM_014697.3

p.S138N

c.413G>A

1 paper

NM_014697.3

p.I128I

c.384C>T

1 paper

NM_014697.3

p.I116fs

c.346_347fs

3 papers

NM_014697.3

p.R115Splc

c.345-3T>G