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

5 papers

NM_001042492.3

p.M667_D668Splc

c.2002-14C>G

Surrounding Variants

1 paper

NM_001042492.3

p.M667_D668Splc

c.2002-10T>A

3 papers

NM_001042492.3

p.D668_A671delFs

c.2002_2011del10

3 papers

NM_001042492.3

p.M667_D668Splc

c.2002-3C>G

1 paper

NM_001042492.3

p.D668_S669delFs

c.2002_2006del5

2 papers

NM_001042492.3

p.M667_D668Splc

c.2002-2A>C

3 papers

NM_001042492.3

p.M667_D668Splc

c.2002-2A>G

4 papers

NM_001042492.3

p.M667_D668Splc

c.2002-1G>A

1 paper

NM_001042492.3

p.M667_D668Splc

c.2002-1G>C

2 papers

NM_001042492.3

p.D668N

c.2002G>A

3 papers

NM_001042492.3

p.D668fs

c.2002_2003fs

8 papers

NM_001042492.3

p.D668fs

c.2002_2003fs

1 paper

NM_001042492.3

p.S669_A670delins

c.2007_2009delinsGAT