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.L94_A95insFs

c.282_283insG

Surrounding Variants

1 paper

NM_001042492.3

p.A95fs

c.283_284fs

1 paper

NM_001042492.3

p.A95_G96ins4

c.283_287ins12

3 papers

NM_001042492.3

p.L94P

c.281T>C

1 paper

NM_001042492.3

p.A95D

c.284C>A

2 papers

NM_001042492.3

p.L94fs

c.280_281fs

1 paper

NM_001042492.3

p.L94insFs

c.281_282insT

1 paper

NM_001042492.3

p.A95G

c.284C>G

4 papers

NM_001042492.3

p.L94F

c.280C>T

4 papers

NM_001042492.3

p.A95V

c.284C>T

1 paper

NM_001042492.3

p.L94delFs

c.281delT

1 paper

NM_001042492.3

p.L94fs

c.280_281fs

4 papers

NM_001042492.3

p.C93*

c.279T>A