Varaico: Literature-Extracted Genetic Variants

NOSTRIN

30 papers

RefSeq Summary

Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothe...

Pfam Domains

FCHaa 14–88UCSCFes/CIP4, and EFC/F-BAR homology domain

HR1_TOCAaa 284–377UCSCTOCA family HR1 domain

SH3_9aa 445–493UCSCVariant SH3 domain

Gene Aliases

HGNC Name

nitric oxide synthase trafficking

HGNC Alias Symbol

MGC20702

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039724.4

p.C67R

c.199T>C

Surrounding Variants

1 paper

NM_001039724.4

p.S76*

c.227C>A

1 paper

NM_001039724.4

p.S76*

c.227C>G

1 paper

NM_001039724.4

p.L89I

c.265C>A

1 paper

NM_001039724.4

p.L89F

c.265C>T

1 paper

NM_001039724.4

p.L115delFs

c.343delC

1 paper

NM_001039724.4

p.Q132*

c.394C>T

2 papers

NM_001039724.4

p.I134V

c.400A>G

1 paper

NM_001039724.4

p.K65insFs

c.194dupA