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.P677delins

c.2029_2030delinsTT

Surrounding Variants

1 paper

NM_001042492.3

p.P677S

c.2029C>T

2 papers

NM_001042492.3

p.T676N

c.2027C>A

1 paper

NM_001042492.3

p.T676I

c.2027C>T

2 papers

NM_001042492.3

p.T676Fs

c.2027_2028delinsAFs

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

6 papers

NM_001042492.3

p.P678T

c.2032C>A

18 papers

NM_001042492.3

p.P678fs

c.2032_2033fs