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.P516T

c.1546C>A

Surrounding Variants

3 papers

NM_001042492.3

p.P516S

c.1546C>T

1 paper

NM_001042492.3

p.P516R

c.1547C>G

1 paper

NM_001042492.3

p.P516L

c.1547C>T

1 paper

NM_001042492.3

p.P516insFs

c.1546_1547insC

3 papers

NM_001042492.3

p.P516delFs

c.1546delC

1 paper

NM_001042492.3

p.P516P

c.1548C>T

1 paper

NM_001042492.3

p.G515E

c.1544G>A

2 papers

NM_001042492.3

p.E517K

c.1549G>A

1 paper

NM_001042492.3

p.G515R

c.1543G>A

1 paper

NM_001042492.3

p.G515R

c.1543G>C

1 paper

NM_001042492.3

p.E517fs

c.1549_1550fs

2 papers

NM_001042492.3

p.E517*

c.1549G>T