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.F741I

c.2221T>A

Surrounding Variants

1 paper

NM_001042492.3

p.E740E

c.2220G>A

2 papers

NM_001042492.3

p.F741Y

c.2222T>A

1 paper

NM_001042492.3

p.E740V

c.2219A>T

4 papers

NM_001042492.3

p.A742T

c.2224G>A

2 papers

NM_001042492.3

p.E740*

c.2218G>T

2 papers

NM_001042492.3

p.A742S

c.2224G>T

1 paper

NM_001042492.3

p.A742G

c.2225C>G

3 papers

NM_001042492.3

p.S743delFs

c.2228_2229delCT

1 paper

NM_001042492.3

p.M739fs

c.2215_2216fs

1 paper

NM_001042492.3

p.S743fs

c.2227_2228fs

1 paper

NM_001042492.3

p.S743insFs

c.2229dupT

2 papers

NM_001042492.3

p.S743C

c.2228C>G