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.N39_K40insFs

c.117_118insAC

Surrounding Variants

1 paper

NM_001042492.3

p.N39_K40insFs

c.117_118ins4

1 paper

NM_001042492.3

p.N39_K40insFs

c.117_118ins10

1 paper

NM_001042492.3

p.N39_K40ins4

c.117_118ins12

2 papers

NM_001042492.3

p.N39S

c.116A>G

2 papers

NM_001042492.3

p.N39I

c.116A>T

1 paper

NM_001042492.3

p.N39_K40delFs

c.117_120del4

1 paper

NM_001042492.3

p.H38Q

c.114C>A

1 paper

NM_001042492.3

p.H38Q

c.114C>G

1 paper

NM_001042492.3

p.H38H

c.114C>T

1 paper

NM_001042492.3

p.K40delFs

c.118delA

1 paper

NM_001042492.3

p.K40_E41del2

c.118_122del6

1 paper

NM_001042492.3

p.K40*

c.118A>T