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

3 papers

NM_001042492.3

p.N664insFs

c.1992dupC

Surrounding Variants

3 papers

NM_001042492.3

p.S666_M667insFs

c.1998_1999ins5

1 paper

NM_001042492.3

p.N664S

c.1991A>G

1 paper

NM_001042492.3

p.N664fs

c.1990_1991fs

2 papers

NM_001042492.3

p.N664fs

c.1990_1991fs

1 paper

NM_001042492.3

p.N664N

c.1992C>T

3 papers

NM_001042492.3

p.S665fs

c.1993_1994fs

10 papers

NM_001042492.3

p.S665F

c.1994C>T

1 paper

NM_001042492.3

p.S666delins

c.1998delinsTTCT

6 papers

NM_001042492.3

p.G663R

c.1987G>A

5 papers

NM_001042492.3

p.G663R

c.1987G>C

2 papers

NM_001042492.3

p.G663fs

c.1987_1988fs

1 paper

NM_001042492.3

p.G663_M667delFs

c.1989_2001del13