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.C1792insFs

c.5375_5376insC

Surrounding Variants

1 paper

NM_001042492.3

p.L1793L

c.5377C>T

1 paper

NM_001042492.3

p.L1793fs

c.5377_5378fs

2 papers

NM_001042492.3

p.V1794_D1795insFs

c.5382_5383insC

1 paper

NM_001042492.3

p.D1795_E1796insFs

c.5385_5386ins4

1 paper

NM_001042492.3

p.D1795_E1796del2

c.5383_5387del6

2 papers

NM_001042492.3

p.E1790*

c.5368G>T

1 paper

NM_000267.3

p.I1770delFs

c.5308delA

1 paper

NM_001042492.3

p.D1795N

c.5383G>A

1 paper

NM_001042492.3

p.D1795insFs

c.5384_5385insAC

1 paper

NM_001042492.3

p.E1789K

c.5365G>A

1 paper

NM_001042492.3

p.E1789*

c.5365G>T

1 paper

NM_000267.3

p.E1768delFs

c.5304delA