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

1–12 of 12832 variants

146 papers

NM_001042492.3

p.Y489C

c.1466A>G

133 papers

NM_001042492.3

p.P678insFs

c.2033dupC

117 papers

NM_001042492.3

p.R304*

c.910C>T

116 papers

NM_001042492.3

p.R440*

c.1318C>T

114 papers

NM_001042492.3

p.R1362*

c.4084C>T

110 papers

NM_001042492.3

p.R681*

c.2041C>T

100 papers

NM_001042492.3

p.R192*

c.574C>T

99 papers

NM_001042492.3

p.R816*

c.2446C>T

92 papers

NM_001042492.3

p.G629R

c.1885G>A

92 papers

NM_001042492.3

p.R1306*

c.3916C>T

91 papers

NM_001042492.3

p.R1276Q

c.3827G>A

90 papers

NM_001042492.3

p.T990_M991del1

c.2970_2972delAAT