Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001042492.3

p.C673Y

c.2018G>A

Surrounding Variants

3 papers

NM_001042492.3

p.C673delFs

c.2019delC

4 papers

NM_001042492.3

p.C673*

c.2019C>A

1 paper

NM_001042492.3

p.C673insFs

c.2018_2019ins4

1 paper

NM_001042492.3

p.C673delFs

c.2018delG

2 papers

NM_001042492.3

p.S674fs

c.2020_2021fs

1 paper

NM_001042492.3

p.S674G

c.2020A>G

1 paper

NM_001042492.3

p.G672G

c.2016A>T

3 papers

NM_001042492.3

p.G672V

c.2015G>T

1 paper

NM_001042492.3

p.G675insFs

c.2023_2024insG

1 paper

NM_001042492.3

p.S674S

c.2022C>T

2 papers

NM_001042492.3

p.G672R

c.2014G>A

2 papers

NM_001042492.3

p.G672R

c.2014G>C