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.S825P

c.2473T>C

Surrounding Variants

1 paper

NM_001042492.3

p.S825fs

c.2473_2474fs

6 papers

NM_001042492.3

p.S825C

c.2474C>G

1 paper

NM_001042492.3

p.G824E

c.2471G>A

1 paper

NM_001042492.3

p.I826L

c.2476A>C

2 papers

NM_001042492.3

p.I826V

c.2476A>G

1 paper

NM_001042492.3

p.I826L

c.2476A>T

1 paper

NM_001042492.3

p.G824*

c.2470G>T

1 paper

NM_001042492.3

p.D827_L828del2

c.2479_2483del6

1 paper

NM_001042492.3

p.G823fs

c.2467_2468fs

3 papers

NM_001042492.3

p.G823*

c.2467G>T

1 paper

NM_001042492.3

p.D827Y

c.2479G>T

2 papers

NM_001042492.3

p.D827delFs

c.2480delA