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.D830N

c.2488G>A

Surrounding Variants

4 papers

NM_001042492.3

p.T831insFs

c.2492_2493dupCA

2 papers

NM_001042492.3

p.T831delFs

c.2492_2493delCA

1 paper

NM_001042492.3

p.S829S

c.2487T>A

1 paper

NM_001042492.3

p.S829insFs

c.2487dupT

1 paper

NM_001042492.3

p.D830_T831insFs

c.2490_2491insT

2 papers

NM_001042492.3

p.S829F

c.2486C>T

1 paper

NM_001042492.3

p.T831fs

c.2491_2492fs

1 paper

NM_001042492.3

p.T831P

c.2491A>C

1 paper

NM_001042492.3

p.T831A

c.2491A>G

1 paper

NM_001042492.3

p.T831fs

c.2491_2492fs

1 paper

NM_001042492.3

p.S829A

c.2485T>G

1 paper

NM_001042492.3

p.S829_D830ins8

c.2485_2489ins24