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_000267.3

p.K1823fs

c.5467_5468fs

NM_001042492.3

p.K1844fs

c.5530_5531fs

Surrounding Variants

1 paper

NM_001042492.3

p.K1844*

c.5530A>T

2 papers

NM_001042492.3

p.K1844T

c.5531A>C

1 paper

NM_001042492.3

p.K1844N

c.5532G>C

1 paper

NM_001042492.3

p.K1844N

c.5532G>T

1 paper

NM_001042492.3

p.T1843insFs

c.5529dupC

1 paper

NM_000267.3

p.I1824insFs

c.5471_5472insT

1 paper

NM_001042492.3

p.T1843S

c.5527A>T

1 paper

NM_001042492.3

p.I1845F

c.5533A>T

1 paper

NM_001042492.3

p.I1845delFs

c.5534delT

1 paper

NM_001042492.3

p.H1842Q

c.5526C>A

1 paper

NM_001042492.3

p.H1842Q

c.5526C>G

2 papers

NM_001042492.3

p.I1845S

c.5534T>G

NM_000267.3

p.I1824S

c.5471T>G