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.N734_N736delFs

c.2202_2208del7

Surrounding Variants

1 paper

NM_001042492.3

p.N734I

c.2201A>T

1 paper

NM_001042492.3

p.N734delins

c.2201_2202delinsTA

1 paper

NM_001042492.3

p.N734fs

c.2200_2201fs

1 paper

NM_001042492.3

p.Y735_F738delFs

c.2204_2213del10

1 paper

NM_001042492.3

p.P733P

c.2199C>A

1 paper

NM_001042492.3

p.N734delFs

c.2201delA

2 papers

NM_001042492.3

p.Y735H

c.2203T>C

1 paper

NM_001042492.3

p.Y735fs

c.2203_2204fs

1 paper

NM_001042492.3

p.Y735_N736delFs

c.2204_2207del4

1 paper

NM_001042492.3

p.Y735S

c.2204A>C

1 paper

NM_001042492.3

p.Y735C

c.2204A>G

1 paper

NM_001042492.3

p.P733fs

c.2197_2198fs