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.M369Splc

c.1105+5G>C

Surrounding Variants

1 paper

NM_014697.3

p.A368T

c.1102G>A

1 paper

NM_014697.3

p.Q357fs

c.1069_1070fs

1 paper

NM_014697.3

p.L338I

c.1012C>A

2 papers

NM_014697.3

p.R334R

c.1002C>T

1 paper

NM_014697.3

p.R334C

c.1000C>T

1 paper

NM_014697.3

p.R328Q

c.983G>A

1 paper

NM_014697.3

p.A327insFs

c.979_980insAG

1 paper

NM_014697.3

p.A326V

c.977C>T

1 paper

NM_014697.3

p.E324_A325ins1

c.972_973insAAA

1 paper

NM_014697.3

p.E324_A325insFs

c.972_973ins4

1 paper

NM_014697.3

p.Q313_V314Splc

c.940-18G>A

1 paper

NM_014697.3

p.E377E

c.1131G>A