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.D176A

c.527A>C

Surrounding Variants

3 papers

NM_001042492.3

p.D176G

c.527A>G

2 papers

NM_001042492.3

p.D176V

c.527A>T

1 paper

NM_001042492.3

p.D176delFs

c.528delT

3 papers

NM_001042492.3

p.D176N

c.526G>A

1 paper

NM_001042492.3

p.D176Y

c.526G>T

1 paper

NM_001042492.3

p.D176delFs

c.527delA

2 papers

NM_001042492.3

p.I177delFs

c.530_531delTA

46 papers

NM_001042492.3

p.D176E

c.528T>A

40 papers

NM_001042492.3

p.D176E

c.528T>G

1 paper

NM_001042492.3

p.I177insFs

c.529dupA

1 paper

NM_001042492.3

p.I177insFs

c.529_530insGA

2 papers

NM_001042492.3

p.I177fs

c.529_530fs