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.M1260L

c.3778A>C

Surrounding Variants

1 paper

NM_001042492.3

p.M1260fs

c.3778_3779fs

1 paper

NM_001042492.3

p.M1260_F1261ins10

c.3778_3782ins30

2 papers

NM_001042492.3

p.M1260_F1261ins13

c.3778_3782ins39

1 paper

NM_001042492.3

p.M1260V

c.3778A>G

1 paper

NM_001042492.3

p.M1260L

c.3778A>T

1 paper

NM_001042492.3

p.M1260fs

c.3778_3779fs

1 paper

NM_001042492.3

p.M1260delFs

c.3778_3779delAT

1 paper

NM_001042492.3

p.M1260_F1261delFs

c.3778_3782del5

1 paper

NM_001042492.3

p.M1260T

c.3779T>C

1 paper

NM_001042492.3

p.N1259_M1260insT

c.3775_3779ins3

1 paper

NM_001042492.3

p.F1261_S1262ins13

c.3781_3785ins39

11 papers

NM_001042492.3

p.W1258*

c.3774G>A