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

60 papers

NM_001042492.3

p.L847P

c.2540T>C

Surrounding Variants

10 papers

NM_001042492.3

p.L847R

c.2540T>G

1 paper

NM_001042492.3

p.L847I

c.2539C>A

1 paper

NM_001042492.3

p.L847V

c.2539C>G

1 paper

NM_001042492.3

p.L847F

c.2539C>T

1 paper

NM_001042492.3

p.L847delFs

c.2541delT

1 paper

NM_001042492.3

p.L847fs

c.2539_2540fs

1 paper

NM_001042492.3

p.L847L

c.2541T>C

4 papers

NM_001042492.3

p.G849insFs

c.2546dupG

6 papers

NM_001042492.3

p.G849delFs

c.2546delG

2 papers

NM_001042492.3

p.G848_G849del2

c.2542_2546del6

1 paper

NM_001042492.3

p.L847del1

c.2539_2540delCTT

30 papers

NM_001042492.3

p.G848R

c.2542G>A