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.A702delFs

c.2106delT

Surrounding Variants

1 paper

NM_001042492.3

p.A702T

c.2104G>A

1 paper

NM_001042492.3

p.A702_V703insCG

c.2104_2108ins6

1 paper

NM_001042492.3

p.A702delFs

c.2105delC

2 papers

NM_001042492.3

p.A702fs

c.2104_2105fs

1 paper

NM_001042492.3

p.A702_V703insFs

c.2106_2107insCA

1 paper

NM_001042492.3

p.V703insFs

c.2107dupG

1 paper

NM_001042492.3

p.A702_V703del2

c.2104_2108del6

2 papers

NM_001042492.3

p.V703I

c.2107G>A

3 papers

NM_001042492.3

p.V703fs

c.2107_2108fs

1 paper

NM_001042492.3

p.L704insFs

c.2110_2111dupCT

1 paper

NM_001042492.3

p.E701_A702insA

c.2101_2105ins3

1 paper

NM_001042492.3

p.E701delFs

c.2103delA