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.N67S

c.200A>G

Surrounding Variants

1 paper

NM_001042492.3

p.N67fs

c.199_200fs

1 paper

NM_001042492.3

p.N67fs

c.199_200fs

1 paper

NM_001042492.3

p.M68insFs

c.202dupA

1 paper

NM_001042492.3

p.M68del1

c.202_203delATG

1 paper

NM_001042492.3

p.M68fs

c.202_203fs

1 paper

NM_001042492.3

p.M68L

c.202A>C

1 paper

NM_001042492.3

p.M68V

c.202A>G

1 paper

NM_001042492.3

p.M68delFs

c.203_204delTG

1 paper

NM_001042492.3

p.M68fs

c.202_203fs

2 papers

NM_001042492.3

p.N67insFs

c.200dupA

1 paper

NM_001042492.3

p.N67delFs

c.199delA

1 paper

NM_001042492.3

p.N66S

c.197A>G