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.T59delFs

c.176delC

Surrounding Variants

2 papers

NM_001042492.3

p.T59P

c.175A>C

3 papers

NM_001042492.3

p.T59A

c.175A>G

2 papers

NM_001042492.3

p.T59S

c.175A>T

1 paper

NM_001042492.3

p.T59fs

c.175_176fs

2 papers

NM_001042492.3

p.T59N

c.176C>A

1 paper

NM_001042492.3

p.T59insFs

c.177dupT

5 papers

NM_001042492.3

p.T59S

c.176C>G

1 paper

NM_001042492.3

p.T59delFs

c.175delA

5 papers

NM_001042492.3

p.T60del1

c.178_179delACT

1 paper

NM_001042492.3

p.T59_T60delFs

c.175_178del4

3 papers

NM_001042492.3

p.T59T

c.177T>C

1 paper

NM_001042492.3

p.L58P

c.173T>C