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

3 papers

NM_001042492.3

p.E595fs

c.1783_1784fs

Surrounding Variants

1 paper

NM_001042492.3

p.E595K

c.1783G>A

2 papers

NM_001042492.3

p.E595fs

c.1783_1784fs

3 papers

NM_001042492.3

p.E595*

c.1783G>T

2 papers

NM_001042492.3

p.E595G

c.1784A>G

1 paper

NM_001042492.3

p.E595D

c.1785A>C

1 paper

NM_001042492.3

p.E595E

c.1785A>G

1 paper

NM_001042492.3

p.E595D

c.1785A>T

5 papers

NM_001042492.3

p.E595delFs

c.1783_1784delGA

1 paper

NM_001042492.3

p.T594fs

c.1780_1781fs

1 paper

NM_001042492.3

p.I596insFs

c.1788dupT

3 papers

NM_001042492.3

p.T594A

c.1780A>G

3 papers

NM_001042492.3

p.T594fs

c.1780_1781fs