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

5 papers

NM_000267.3

p.S1765*

c.5294C>A

NM_001042492.3

p.S1786*

c.5357C>A

Surrounding Variants

5 papers

NM_001042492.3

p.S1786L

c.5357C>T

1 paper

NM_001042492.3

p.S1786delFs

c.5358delG

1 paper

NM_001042492.3

p.S1786_E1787delins

c.5358_5359delinsAT

2 papers

NM_001042492.3

p.E1787fs

c.5359_5360fs

2 papers

NM_001042492.3

p.E1787*

c.5359G>T

2 papers

NM_001042492.3

p.I1788delFs

c.5362delA

1 paper

NM_001042492.3

p.E1787fs

c.5359_5360fs

2 papers

NM_000267.3

p.A1764S

c.5290G>T

NM_001042492.3

p.A1785S

c.5353G>T

2 papers

NM_001042492.3

p.A1785delFs

c.5354delC

1 paper

NM_001042492.3

p.A1785fs

c.5353_5354fs

1 paper

NM_001042492.3

p.I1788fs

c.5362_5363fs

3 papers

NM_000267.3

p.Y1763*

c.5289T>A

NM_001042492.3

p.Y1784*

c.5352T>A