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.Q950_V951Splc

c.2851-2A>T

Surrounding Variants

1 paper

NM_001042492.3

p.Q950_V951Splc

c.2851-2A>C

8 papers

NM_001042492.3

p.Q950_V951Splc

c.2851-2A>G

1 paper

NM_001042492.3

p.V951delFs

c.2851delG

4 papers

NM_001042492.3

p.Q950_V951Splc

c.2851-1G>A

3 papers

NM_001042492.3

p.Q950_V951Splc

c.2851-1G>T

1 paper

NM_001042492.3

p.V951_L952del2

c.2851_2855del6

1 paper

NM_001042492.3

p.V951insFs

c.2853dupT

8 papers

NM_001042492.3

p.V951F

c.2851G>T

2 papers

NM_001042492.3

p.L952delFs

c.2855delT

1 paper

NM_001042492.3

p.V951fs

c.2851_2852fs

3 papers

NM_001042492.3

p.Q950_V951Splc

c.2851-4T>G

1 paper

NM_001042492.3

p.V951V

c.2853T>G