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.E2469*

c.7405G>T

Surrounding Variants

1 paper

NM_000267.3

p.N2449delFs

c.7345_7346delAA

1 paper

NM_001042492.3

p.E2469fs

c.7405_7406fs

1 paper

NM_001042492.3

p.E2469delFs

c.7405delG

1 paper

NM_001042492.3

p.N2470fs

c.7408_7409fs

1 paper

NM_001042492.3

p.M2468V

c.7402A>G

1 paper

NM_000267.3

p.N2449fs

c.7345_7346fs

5 papers

NM_000267.3

p.S2446*

c.7337C>A

NM_001042492.3

p.S2467*

c.7400C>A

5 papers

NM_000267.3

p.S2446*

c.7337C>G

NM_001042492.3

p.S2467*

c.7400C>G

1 paper

NM_001042492.3

p.V2471delFs

c.7413delT

1 paper

NM_000267.3

p.S2446delFs

c.7337delC

1 paper

NM_001042492.3

p.V2471A

c.7412T>C

1 paper

NM_001042492.3

p.I2466T

c.7397T>C