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.L1304S

c.3911T>C

Surrounding Variants

1 paper

NM_001042492.3

p.L1304*

c.3911T>A

2 papers

NM_001042492.3

p.L1304*

c.3911T>G

1 paper

NM_001042492.3

p.L1305Fs

c.3913delinsGAAFs

1 paper

NM_001042492.3

p.P1303insFs

c.3908_3909insT

1 paper

NM_001042492.3

p.L1304delFs

c.3911delT

2 papers

NM_001042492.3

p.L1305*

c.3914T>A

2 papers

NM_001042492.3

p.L1305*

c.3914T>G

1 paper

NM_001042492.3

p.L1305insFs

c.3915dupA

1 paper

NM_001042492.3

p.R1306_I1307del2

c.3916_3920del6

1 paper

NM_001042492.3

p.P1303fs

c.3907_3908fs

92 papers

NM_001042492.3

p.R1306*

c.3916C>T

1 paper

NM_001042492.3

p.D1302E

c.3906T>A