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.P539R

c.1616C>G

Surrounding Variants

1 paper

NM_001042492.3

p.P539delFs

c.1617delA

2 papers

NM_001042492.3

p.P539A

c.1615C>G

1 paper

NM_001042492.3

p.M538I

c.1614G>A

1 paper

NM_001042492.3

p.M538I

c.1614G>C

1 paper

NM_001042492.3

p.E540Q

c.1618G>C

2 papers

NM_001042492.3

p.E540_I541insA

c.1618_1622ins3

1 paper

NM_001042492.3

p.M538I

c.1614G>T

1 paper

NM_001042492.3

p.E540*

c.1618G>T

2 papers

NM_001042492.3

p.E540insFs

c.1619_1620ins4

1 paper

NM_001042492.3

p.M538fs

c.1612_1613fs

1 paper

NM_001042492.3

p.M538delFs

c.1613delT

3 papers

NM_001042492.3

p.M538fs

c.1612_1613fs