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.S2500F

c.7499C>T

Surrounding Variants

1 paper

NM_000267.3

p.S2479delFs

c.7436delC

5 papers

NM_001042492.3

p.E2501*

c.7501G>T

2 papers

NM_001042492.3

p.G2499V

c.7496G>T

1 paper

NM_001042492.3

p.G2499S

c.7495G>A

1 paper

NM_001042492.3

p.G2499delFs

c.7496delG

2 papers

NM_001042492.3

p.G2502*

c.7504G>T

1 paper

NM_001042492.3

p.G2502E

c.7505G>A

1 paper

NM_001042492.3

p.K2498*

c.7492A>T

1 paper

NM_001042492.3

p.K2498_E2501del4

c.7492_7502del12

1 paper

NM_001042492.3

p.Y2503C

c.7508A>G

1 paper

NM_001042492.3

p.P2497L

c.7490C>T

2 papers

NM_000267.3

p.Y2482*

c.7446C>A

NM_001042492.3

p.Y2503*

c.7509C>A