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

1–12 of 135 variants

5 papers

NM_014697.3

p.Q301del1

c.901_902delCAG

4 papers

NM_014697.3

p.Q27E

c.79C>G

4 papers

NM_014697.3

p.D423N

c.1267G>A

3 papers

NM_014697.3

p.V37I

c.109G>A

3 papers

NM_014697.3

p.R115Splc

c.345-3T>G

3 papers

NM_014697.3

p.C143Y

c.428G>A

3 papers

NM_014697.3

p.M369Splc

c.1105+5G>C

2 papers

NM_014697.3

p.N46D

c.136A>G

2 papers

NM_014697.3

p.A53T

c.157G>A

2 papers

NM_014697.3

p.W101delFs

c.301delT

2 papers

NM_014697.3

p.S104N

c.311G>A

2 papers

NM_014697.3

p.S188S

c.564C>T