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.Q642_S644delFs

c.1925_1931del7

Surrounding Variants

2 papers

NM_001042492.3

p.S641fs

c.1921_1922fs

1 paper

NM_001042492.3

p.S641R

c.1921A>C

7 papers

NM_001042492.3

p.S641G

c.1921A>G

2 papers

NM_001042492.3

p.S641C

c.1921A>T

1 paper

NM_001042492.3

p.S641N

c.1922G>A

2 papers

NM_001042492.3

p.T640N

c.1919C>A

2 papers

NM_001042492.3

p.T640S

c.1919C>G

2 papers

NM_001042492.3

p.T640I

c.1919C>T

1 paper

NM_001042492.3

p.S641R

c.1923T>A

1 paper

NM_001042492.3

p.S641R

c.1923T>G

1 paper

NM_001042492.3

p.Q642_M643del2

c.1924_1928del6

1 paper

NM_001042492.3

p.T640insFs

c.1920dupC