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.P698fs

c.2092_2093fs

Surrounding Variants

2 papers

NM_001042492.3

p.P698delFs

c.2093_2094delCT

1 paper

NM_001042492.3

p.P698insFs

c.2093_2094ins28

2 papers

NM_001042492.3

p.P698L

c.2093C>T

1 paper

NM_001042492.3

p.P698P

c.2094T>C

1 paper

NM_001042492.3

p.D699_M707del9

c.2095_2120del27

1 paper

NM_001042492.3

p.N697_D699insFs

c.2090_2097dup8

2 papers

NM_001042492.3

p.D699fs

c.2095_2096fs

17 papers

NM_001042492.3

p.W696*

c.2088G>A

1 paper

NM_001042492.3

p.T700delFs

c.2098delA

20 papers

NM_001042492.3

p.W696*

c.2087G>A

1 paper

NM_001042492.3

p.T700fs

c.2098_2099fs

4 papers

NM_001042492.3

p.T700A

c.2098A>G