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.P1867L

c.5600C>T

Surrounding Variants

1 paper

NM_001042492.3

p.D1866fs

c.5596_5597fs

1 paper

NM_001042492.3

p.S1865_D1866insFs

c.5595_5596ins5

2 papers

NM_001042492.3

p.S1865Y

c.5594C>A

1 paper

NM_001042492.3

p.S1865C

c.5594C>G

4 papers

NM_000267.3

p.L1848*

c.5543T>A

NM_001042492.3

p.L1869*

c.5606T>A

6 papers

NM_000267.3

p.L1848*

c.5543T>G

NM_001042492.3

p.L1869*

c.5606T>G

1 paper

NM_001042492.3

p.R1870delFs

c.5608_5609delCG

2 papers

NM_001042492.3

p.R1870insFs

c.5609dupG

5 papers

NM_001042492.3

p.R1870W

c.5608C>T

1 paper

NM_001042492.3

p.S1865delFs

c.5594_5595delCT

38 papers

NM_000267.3

p.R1849Q

c.5546G>A

NM_001042492.3

p.R1870Q

c.5609G>A

1 paper

NM_001042492.3

p.S1864N

c.5591G>A