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.P2242L

c.6725C>T

Surrounding Variants

1 paper

NM_000267.3

p.S2222delFs

c.6664delT

8 papers

NM_001042492.3

p.P2242S

c.6724C>T

1 paper

NM_001042492.3

p.S2243fs

c.6727_6728fs

1 paper

NM_001042492.3

p.S2243insFs

c.6728_6729insTA

1 paper

NM_001042492.3

p.N2241fs

c.6721_6722fs

1 paper

NM_001042492.3

p.L2244_Q2245delFs

c.6730_6734del5

1 paper

NM_001042492.3

p.L2244fs

c.6730_6731fs

1 paper

NM_001042492.3

p.L2244insFs

c.6731dupT

1 paper

NM_001042492.3

p.Y2240*

c.6720T>A

1 paper

NM_001042492.3

p.Y2240*

c.6720T>G

1 paper

NM_001042492.3

p.Y2240insFs

c.6718_6719ins17

1 paper

NM_001042492.3

p.Q2239Q

c.6717A>G