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

2 papers

NM_001042492.3

p.S593N

c.1778G>A

Surrounding Variants

1 paper

NM_001042492.3

p.S593I

c.1778G>T

5 papers

NM_001042492.3

p.T594delFs

c.1780delA

1 paper

NM_001042492.3

p.T594fs

c.1780_1781fs

3 papers

NM_001042492.3

p.T594A

c.1780A>G

3 papers

NM_001042492.3

p.T594fs

c.1780_1781fs

5 papers

NM_001042492.3

p.E595delFs

c.1783_1784delGA

3 papers

NM_001042492.3

p.S592N

c.1775G>A

1 paper

NM_001042492.3

p.S592I

c.1775G>T

1 paper

NM_001042492.3

p.S592fs

c.1774_1775fs

1 paper

NM_001042492.3

p.S592_S593insT

c.1774_1778ins3

1 paper

NM_001042492.3

p.E595K

c.1783G>A

2 papers

NM_001042492.3

p.E595fs

c.1783_1784fs