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.R59_Y60Splc

c.177+7267T>C

Surrounding Variants

1 paper

NM_014697.3

p.M55I

c.165G>A

2 papers

NM_014697.3

p.A53T

c.157G>A

1 paper

NM_014697.3

p.N46K

c.138C>A

1 paper

NM_014697.3

p.N46K

c.138C>G

2 papers

NM_014697.3

p.N46D

c.136A>G

1 paper

NM_014697.3

p.S39S

c.117C>T

1 paper

NM_014697.3

p.G38A

c.113G>C

1 paper

NM_014697.3

p.V37E

c.110T>A

3 papers

NM_014697.3

p.V37I

c.109G>A