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.N1963S

c.5888A>G

Surrounding Variants

2 papers

NM_001042492.3

p.N1963T

c.5888A>C

1 paper

NM_001042492.3

p.N1963H

c.5887A>C

1 paper

NM_001042492.3

p.N1963fs

c.5887_5888fs

2 papers

NM_001042492.3

p.D1964Y

c.5890G>T

5 papers

NM_001042492.3

p.N1963delFs

c.5887delA

1 paper

NM_001042492.3

p.D1965fs

c.5893_5894fs

1 paper

NM_001042492.3

p.D1965Y

c.5893G>T

1 paper

NM_001042492.3

p.K1961*

c.5881A>T

1 paper

NM_000267.3

p.K1940fs

c.5818_5819fs

1 paper

NM_001042492.3

p.A1966insFs

c.5896dupG

2 papers

NM_000267.3

p.C1939*

c.5817C>A

NM_001042492.3

p.C1960*

c.5880C>A

1 paper

NM_000267.3

p.K1940delFs

c.5819delA