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.I541_A542insTC

c.1621_1625ins6

Surrounding Variants

1 paper

NM_001042492.3

p.I541_A542insA

c.1621_1625ins3

4 papers

NM_001042492.3

p.I541V

c.1621A>G

1 paper

NM_001042492.3

p.E540D

c.1620G>C

1 paper

NM_001042492.3

p.E540D

c.1620G>T

1 paper

NM_001042492.3

p.I541_A542del2

c.1621_1625del6

2 papers

NM_001042492.3

p.E540insFs

c.1619_1620ins4

4 papers

NM_001042492.3

p.A542T

c.1624G>A

1 paper

NM_001042492.3

p.E540Q

c.1618G>C

1 paper

NM_001042492.3

p.A542fs

c.1624_1625fs

2 papers

NM_001042492.3

p.E540_I541insA

c.1618_1622ins3

1 paper

NM_001042492.3

p.E540*

c.1618G>T

1 paper

NM_001042492.3

p.A542S

c.1624G>T