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.S2260S

c.6780T>G

Surrounding Variants

1 paper

NM_001042492.3

p.H2261fs

c.6781_6782fs

2 papers

NM_001042492.3

p.H2261insFs

c.6781_6782insTT

2 papers

NM_001042492.3

p.H2261Y

c.6781C>T

1 paper

NM_001042492.3

p.S2260F

c.6779C>T

1 paper

NM_001042492.3

p.H2261fs

c.6781_6782fs

1 paper

NM_001042492.3

p.H2261L

c.6782A>T

1 paper

NM_001042492.3

p.S2260_H2261delFs

c.6780_6781delTC

1 paper

NM_001042492.3

p.G2262insFs

c.6784dupG

1 paper

NM_001042492.3

p.G2262delFs

c.6786delG

1 paper

NM_001042492.3

p.G2262R

c.6784G>A

1 paper

NM_001042492.3

p.G2262R

c.6784G>C

1 paper

NM_001042492.3

p.V2259E

c.6776T>A