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.T586del1

c.1756_1757delACT

Surrounding Variants

1 paper

NM_001042492.3

p.L585F

c.1755A>C

1 paper

NM_001042492.3

p.L585F

c.1755A>T

12 papers

NM_001042492.3

p.T586fs

c.1756_1757fs

3 papers

NM_001042492.3

p.T586P

c.1756A>C

1 paper

NM_001042492.3

p.T586A

c.1756A>G

1 paper

NM_001042492.3

p.T586S

c.1756A>T

1 paper

NM_001042492.3

p.T586delFs

c.1757delC

23 papers

NM_001042492.3

p.T586fs

c.1756_1757fs

1 paper

NM_001042492.3

p.T586_S587delFs

c.1757_1760del4

2 papers

NM_001042492.3

p.L585*

c.1754T>A

2 papers

NM_001042492.3

p.L585*

c.1754T>G

1 paper

NM_001042492.3

p.T586delFs

c.1756delA