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.E41V

c.122A>T

Surrounding Variants

3 papers

NM_001042492.3

p.E41A

c.122A>C

1 paper

NM_001042492.3

p.E41G

c.122A>G

1 paper

NM_001042492.3

p.C42_L43del2

c.124_128del6

1 paper

NM_001042492.3

p.C42insFs

c.124dupT

1 paper

NM_001042492.3

p.C42insFs

c.124_125dupTG

2 papers

NM_001042492.3

p.E41insFs

c.123dupA

1 paper

NM_001042492.3

p.E41*

c.121G>T

1 paper

NM_001042492.3

p.E41fs

c.121_122fs

1 paper

NM_001042492.3

p.K40N

c.120G>C

1 paper

NM_001042492.3

p.K40N

c.120G>T

1 paper

NM_001042492.3

p.E41_L43del3

c.121_128del9

1 paper

NM_001042492.3

p.E41_S56delFs

c.122_167del46