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.E1796*

c.5386G>T

Surrounding Variants

1 paper

NM_001042492.3

p.E1796K

c.5386G>A

1 paper

NM_001042492.3

p.E1796insFs

c.5386_5387ins4

1 paper

NM_001042492.3

p.E1796fs

c.5386_5387fs

1 paper

NM_000267.3

p.E1775_T1779delins

c.5323_5336delinsTT

1 paper

NM_000267.3

p.E1775A

c.5324A>C

1 paper

NM_001042492.3

p.D1795_E1796insFs

c.5385_5386insAC

1 paper

NM_001042492.3

p.D1795_E1796insFs

c.5385_5386insC

1 paper

NM_001042492.3

p.E1796_N1797delFs

c.5388_5389delGA

1 paper

NM_001042492.3

p.D1795insFs

c.5384_5385insAC

1 paper

NM_001042492.3

p.E1796D

c.5388G>C

2 papers

NM_001042492.3

p.E1796D

c.5388G>T

1 paper

NM_001042492.3

p.N1797delFs

c.5390delA