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.I812L

c.2434A>C

Surrounding Variants

1 paper

NM_001042492.3

p.I812insFs

c.2436dupT

1 paper

NM_001042492.3

p.I812V

c.2434A>G

2 papers

NM_001042492.3

p.V813_S818insFs

c.2439_2452dup14

1 paper

NM_001042492.3

p.T811I

c.2432C>T

1 paper

NM_001042492.3

p.T811_H819del0

c.2433_2456del24

2 papers

NM_001042492.3

p.I812M

c.2436T>G

1 paper

NM_001042492.3

p.T811fs

c.2431_2432fs

1 paper

NM_001042492.3

p.I812_H819delFs

c.2436_2457del22

1 paper

NM_001042492.3

p.V813I

c.2437G>A

1 paper

NM_001042492.3

p.V813fs

c.2437_2438fs

1 paper

NM_001042492.3

p.V813Fs

c.2438_2439delinsAFs

1 paper

NM_001042492.3

p.K814_H819del6

c.2440_2456del18