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

2 papers

NM_001042492.3

p.Y1783fs

c.5347_5348fs

Surrounding Variants

1 paper

NM_001042492.3

p.Y1783H

c.5347T>C

1 paper

NM_001042492.3

p.Y1783delFs

c.5348delA

2 papers

NM_001042492.3

p.Y1783fs

c.5347_5348fs

1 paper

NM_001042492.3

p.Y1783insFs

c.5349dupT

3 papers

NM_001042492.3

p.Y1783*

c.5349T>A

NM_000267.3

p.Y1762*

c.5286T>A

3 papers

NM_001042492.3

p.Y1783*

c.5349T>G

NM_000267.3

p.Y1762*

c.5286T>G

3 papers

NM_001042492.3

p.Y1783_Y1784del2

c.5347_5351del6

1 paper

NM_001042492.3

p.I1782V

c.5344A>G

3 papers

NM_001042492.3

p.Y1783delFs

c.5347delT

2 papers

NM_001042492.3

p.Y1784insFs

c.5351_5352insC

1 paper

NM_001042492.3

p.Y1784C

c.5351A>G

1 paper

NM_001042492.3

p.Y1784F

c.5351A>T