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.H982fs

c.2944_2945fs

Surrounding Variants

2 papers

NM_001042492.3

p.H982delFs

c.2946delT

2 papers

NM_001042492.3

p.L983delFs

c.2947delC

3 papers

NM_001042492.3

p.L983_G984del2

c.2947_2951del6

1 paper

NM_001042492.3

p.L983V

c.2947C>G

1 paper

NM_001042492.3

p.L983fs

c.2947_2948fs

1 paper

NM_001042492.3

p.E981Q

c.2941G>C

1 paper

NM_001042492.3

p.E981fs

c.2941_2942fs

1 paper

NM_001042492.3

p.E981*

c.2941G>T

1 paper

NM_001042492.3

p.E981delFs

c.2943delA

1 paper

NM_001042492.3

p.G984delFs

c.2952delG

1 paper

NM_001042492.3

p.S980C

c.2939C>G

2 papers

NM_001042492.3

p.G984fs

c.2950_2951fs