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.K4I

c.11A>T

Surrounding Variants

1 paper

NM_014697.3

p.P2insFs

c.4dupC

1 paper

NM_014697.3

p.Y7D

c.19T>G

1 paper

NM_014697.3

p.H21Q

c.63C>A

1 paper

NM_014697.3

p.H21Q

c.63C>G

1 paper

NM_014697.3

p.E23K

c.67G>A

1 paper

NM_014697.3

p.D24Y

c.70G>T

1 paper

NM_014697.3

p.F26S

c.77T>C

4 papers

NM_014697.3

p.Q27E

c.79C>G

1 paper

NM_014697.3

p.C31S

c.92G>C

1 paper

NM_014697.3

p.K35_Y36Splc

c.105+1G>C

1 paper

NM_014697.3

p.K35_Y36Splc

c.105+23G>C