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.H712_C714delFs

c.2136_2142del7

Surrounding Variants

1 paper

NM_001042492.3

p.L713fs

c.2137_2138fs

3 papers

NM_001042492.3

p.R711fs

c.2131_2132fs

1 paper

NM_001042492.3

p.R711G

c.2131C>G

6 papers

NM_001042492.3

p.R711C

c.2131C>T

4 papers

NM_001042492.3

p.R711fs

c.2131_2132fs

1 paper

NM_001042492.3

p.C714_E715delFs

c.2142_2143delTG

1 paper

NM_001042492.3

p.F710L

c.2130C>A

1 paper

NM_001042492.3

p.F710L

c.2130C>G

1 paper

NM_001042492.3

p.R711_V723del13

c.2131_2168del39

1 paper

NM_001042492.3

p.C714S

c.2140T>A

1 paper

NM_001042492.3

p.C714S

c.2141G>C

1 paper

NM_001042492.3

p.F710S

c.2129T>C