Varaico: Literature-Extracted Genetic Variants

Gene:NOS1AP
Variant:p.S276del1

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)
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.S276del1
c.826_827delTCG
Surrounding Variants
1 paper
NM_014697.3
p.S275S
c.825C>T
1 paper
NM_014697.3
p.S275F
c.824C>T
1 paper
NM_014697.3
p.S273A
c.817T>G
2 papers
NM_014697.3
p.P272_S273del1
c.815_817delCTT
1 paper
NM_014697.3
p.G280insFs
c.838_839ins14
1 paper
NM_014697.3
p.T285ins1
c.853_854insCAC
1 paper
NM_014697.3
p.L287L
c.859C>T
1 paper
NM_014697.3
p.L287L
c.861G>C
1 paper
NM_014697.3
p.S288S
c.864C>T
1 paper
NM_014697.3
p.P261R
c.782C>G
1 paper
NM_014697.3
p.P261Fs
c.781_782delinsTFs
1 paper
NM_014697.3
p.H291Y
c.871C>T
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