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

10 papers

NM_001042492.3

p.Q236*

c.706C>T

Surrounding Variants

1 paper

NM_001042492.3

p.Q236E

c.706C>G

1 paper

NM_001042492.3

p.Q236R

c.707A>G

1 paper

NM_001042492.3

p.Q236L

c.707A>T

1 paper

NM_001042492.3

p.I237_D241delFs

c.711_723del13

5 papers

NM_001042492.3

p.Y235*

c.705C>A

7 papers

NM_001042492.3

p.Y235*

c.705C>G

1 paper

NM_001042492.3

p.Y235C

c.704A>G

1 paper

NM_001042492.3

p.Y235delFs

c.705delC

1 paper

NM_001042492.3

p.Q236_I237del2

c.706_710del6

4 papers

NM_001042492.3

p.I237_Q239insFs

c.710_717dup8

1 paper

NM_001042492.3

p.I237V

c.709A>G

3 papers

NM_001042492.3

p.Y235H

c.703T>C