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_000267.3

p.F2217delFs

c.6650delT

Surrounding Variants

1 paper

NM_001042492.3

p.A2237_F2238insFs

c.6711_6712insC

1 paper

NM_001042492.3

p.A2237A

c.6711A>G

1 paper

NM_001042492.3

p.A2237V

c.6710C>T

1 paper

NM_000267.3

p.A2216delFs

c.6648delA

1 paper

NM_001042492.3

p.F2238I

c.6712T>A

1 paper

NM_000267.3

p.F2217fs

c.6649_6650fs

1 paper

NM_001042492.3

p.A2237T

c.6709G>A

2 papers

NM_001042492.3

p.A2237insFs

c.6709_6710insC

1 paper

NM_001042492.3

p.F2238S

c.6713T>C

1 paper

NM_001042492.3

p.F2238_Q2239delFs

c.6714_6715delCC

11 papers

NM_001042492.3

p.Q2239*

c.6715C>T

NM_000267.3

p.Q2218*

c.6652C>T

1 paper

NM_001042492.3

p.Y2240_N2241insFs

c.6720_6721dupTA