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

3 papers

NM_001042492.3

p.K33E

c.97A>G

Surrounding Variants

3 papers

NM_001042492.3

p.K33fs

c.97_98fs

1 paper

NM_001042492.3

p.K33_S35delFs

c.98_104del7

2 papers

NM_001042492.3

p.K33R

c.98A>G

2 papers

NM_001042492.3

p.K33delFs

c.97delA

2 papers

NM_001042492.3

p.K33K

c.99A>G

1 paper

NM_001042492.3

p.V34_S35del2

c.100_104del6

1 paper

NM_001042492.3

p.V34_T36del3

c.100_107del9

1 paper

NM_001042492.3

p.T32N

c.95C>A

1 paper

NM_001042492.3

p.T32insFs

c.95_96ins4

1 paper

NM_001042492.3

p.T32S

c.95C>G

1 paper

NM_001042492.3

p.K33_V34del2

c.97_101del6

4 papers

NM_001042492.3

p.T32fs

c.94_95fs