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.M707fs

c.2119_2120fs

Surrounding Variants

1 paper

NM_001042492.3

p.M707delFs

c.2119delA

1 paper

NM_001042492.3

p.A706D

c.2117C>A

2 papers

NM_001042492.3

p.A706V

c.2117C>T

1 paper

NM_001042492.3

p.M707I

c.2121G>A

1 paper

NM_001042492.3

p.M707I

c.2121G>C

1 paper

NM_001042492.3

p.M707I

c.2121G>T

1 paper

NM_001042492.3

p.A706T

c.2116G>A

1 paper

NM_001042492.3

p.A706P

c.2116G>C

1 paper

NM_001042492.3

p.A706fs

c.2116_2117fs

1 paper

NM_001042492.3

p.A706fs

c.2116_2117fs

1 paper

NM_001042492.3

p.S708delFs

c.2124delC

1 paper

NM_001042492.3

p.S708F

c.2123C>T