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_000267.3

p.C2257fs

c.6769_6770fs

Surrounding Variants

1 paper

NM_000267.3

p.C2257insFs

c.6770_6771insG

1 paper

NM_001042492.3

p.S2277N

c.6830G>A

2 papers

NM_000267.3

p.E2255*

c.6763G>T

NM_001042492.3

p.E2276*

c.6826G>T

1 paper

NM_001042492.3

p.G2281delFs

c.6841delG

1 paper

NM_000267.3

p.E2255_C2257delFs

c.6764_6770del7

3 papers

NM_001042492.3

p.G2281*

c.6841G>T

2 papers

NM_001042492.3

p.A2274V

c.6821C>T

1 paper

NM_001042492.3

p.P2282L

c.6845C>T

1 paper

NM_001042492.3

p.K2273_A2274Splc

c.6820-1G>C

1 paper

NM_000267.3

p.K2252_A2253Splc

c.6757-2A>C

1 paper

NM_001042492.3

p.K2273_A2274Splc

c.6820-2A>G

1 paper

NM_001042492.3

p.P2282P

c.6846T>C