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.N614insFs

c.1840_1841ins4

Surrounding Variants

1 paper

NM_001042492.3

p.N614fs

c.1840_1841fs

1 paper

NM_001042492.3

p.N614Y

c.1840A>T

1 paper

NM_001042492.3

p.N614fs

c.1840_1841fs

1 paper

NM_001042492.3

p.K613K

c.1839A>G

1 paper

NM_001042492.3

p.N614_K615delFs

c.1842_1845del4

1 paper

NM_001042492.3

p.K615delFs

c.1844delA

2 papers

NM_001042492.3

p.K613*

c.1837A>T

1 paper

NM_001042492.3

p.K613fs

c.1837_1838fs

2 papers

NM_001042492.3

p.K615fs

c.1843_1844fs

1 paper

NM_001042492.3

p.K615R

c.1844A>G

1 paper

NM_001042492.3

p.N614delFs

c.1841delA

1 paper

NM_001042492.3

p.K613_N614delFs

c.1837_1841del5