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

2 papers

NM_001042492.3

p.M693delFs

c.2077_2078delAT

Surrounding Variants

7 papers

NM_001042492.3

p.Y692*

c.2076C>A

7 papers

NM_001042492.3

p.Y692*

c.2076C>G

1 paper

NM_001042492.3

p.M693_E701delFs

c.2078_2102del25

1 paper

NM_001042492.3

p.M693V

c.2077A>G

1 paper

NM_001042492.3

p.Y692F

c.2075A>T

2 papers

NM_001042492.3

p.M693fs

c.2077_2078fs

1 paper

NM_001042492.3

p.Y692fs

c.2074_2075fs

1 paper

NM_001042492.3

p.L691L

c.2073G>A

3 papers

NM_001042492.3

p.L691P

c.2072T>C

4 papers

NM_001042492.3

p.L691R

c.2072T>G

2 papers

NM_001042492.3

p.L691fs

c.2071_2072fs

1 paper

NM_001042492.3

p.L691_Y692insFs

c.2071_2074dup4