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.L834fs

c.2500_2501fs

Surrounding Variants

2 papers

NM_001042492.3

p.L834insFs

c.2501_2502insC

1 paper

NM_001042492.3

p.S833F

c.2498C>T

4 papers

NM_001042492.3

p.Q835*

c.2503C>T

1 paper

NM_001042492.3

p.S833fs

c.2497_2498fs

1 paper

NM_001042492.3

p.S833fs

c.2497_2498fs

1 paper

NM_001042492.3

p.Q835insFs

c.2504_2505insC

1 paper

NM_001042492.3

p.Q835delFs

c.2505delG

4 papers

NM_001042492.3

p.S833delFs

c.2497delT

1 paper

NM_001042492.3

p.D832G

c.2495A>G

1 paper

NM_001042492.3

p.S833_L834delFs

c.2498_2501del4

1 paper

NM_001042492.3

p.Q835_E836insFs

c.2505_2506insC

1 paper

NM_001042492.3

p.D832N

c.2494G>A