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.K233Q

c.697A>C

Surrounding Variants

1 paper

NM_001042492.3

p.K233fs

c.697_698fs

2 papers

NM_001042492.3

p.K233E

c.697A>G

2 papers

NM_001042492.3

p.K233fs

c.697_698fs

1 paper

NM_001042492.3

p.K233R

c.698A>G

1 paper

NM_001042492.3

p.K233I

c.698A>T

2 papers

NM_001042492.3

p.K233N

c.699A>C

2 papers

NM_001042492.3

p.K233N

c.699A>T

1 paper

NM_001042492.3

p.L234delFs

c.700delC

1 paper

NM_001042492.3

p.T232R

c.695C>G

2 papers

NM_001042492.3

p.T232I

c.695C>T

3 papers

NM_001042492.3

p.K233delFs

c.699delA

1 paper

NM_001042492.3

p.T232_K233delFs

c.696_697delAA