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_001042492.3

p.T676delFs

c.2026delA

Surrounding Variants

1 paper

NM_001042492.3

p.G675E

c.2024G>A

6 papers

NM_001042492.3

p.G675R

c.2023G>A

6 papers

NM_001042492.3

p.G675R

c.2023G>C

1 paper

NM_001042492.3

p.G675_T676insA

c.2023_2027ins3

2 papers

NM_001042492.3

p.G675*

c.2023G>T

133 papers

NM_001042492.3

p.P678insFs

c.2033dupC

31 papers

NM_001042492.3

p.T676fs

c.2026_2027fs

1 paper

NM_001042492.3

p.T676insFs

c.2026_2027insT

1 paper

NM_001042492.3

p.T676P

c.2026A>C

30 papers

NM_001042492.3

p.P678delFs

c.2033delC

3 papers

NM_001042492.3

p.T676fs

c.2026_2027fs

1 paper

NM_001042492.3

p.G675insFs

c.2023_2024insG