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.I55K

c.164T>A

Surrounding Variants

1 paper

NM_001042492.3

p.I55T

c.164T>C

1 paper

NM_001042492.3

p.I55R

c.164T>G

1 paper

NM_001042492.3

p.S56delFs

c.166delA

1 paper

NM_001042492.3

p.I55_T60del0

c.165_179del15

1 paper

NM_001042492.3

p.I55I

c.165A>C

1 paper

NM_001042492.3

p.S56_G57delFs

c.166_170del5

1 paper

NM_001042492.3

p.S56_T60del0

c.166_180del15

1 paper

NM_001042492.3

p.S56insFs

c.167_168dupGC

1 paper

NM_001042492.3

p.S56fs

c.166_167fs

2 papers

NM_001042492.3

p.S56G

c.166A>G

1 paper

NM_001042492.3

p.I55delFs

c.163delA

1 paper

NM_001042492.3

p.S56N

c.167G>A