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

1 paper

NM_001042492.3

p.A671_C680delFs

c.2013_2040del28

Surrounding Variants

1 paper

NM_001042492.3

p.A671P

c.2011G>C

2 papers

NM_001042492.3

p.A671fs

c.2011_2012fs

1 paper

NM_001042492.3

p.A671G

c.2012C>G

1 paper

NM_001042492.3

p.S669_A670delins

c.2007_2009delinsGAT

2 papers

NM_001042492.3

p.G672R

c.2014G>A

2 papers

NM_001042492.3

p.G672R

c.2014G>C

3 papers

NM_001042492.3

p.G672*

c.2014G>T

1 paper

NM_001042492.3

p.G672fs

c.2014_2015fs

3 papers

NM_001042492.3

p.G672V

c.2015G>T

1 paper

NM_001042492.3

p.G672G

c.2016A>T

1 paper

NM_001042492.3

p.C673insFs

c.2018_2019ins4

1 paper

NM_001042492.3

p.C673delFs

c.2018delG