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.H819fs

c.2455_2456fs

Surrounding Variants

1 paper

NM_001042492.3

p.H819delFs

c.2456delA

3 papers

NM_001042492.3

p.H819fs

c.2455_2456fs

1 paper

NM_001042492.3

p.H819P

c.2456A>C

2 papers

NM_001042492.3

p.H819_S821del3

c.2455_2462del9

1 paper

NM_001042492.3

p.V820delFs

c.2458delG

1 paper

NM_001042492.3

p.V820_G822del3

c.2458_2465del9

1 paper

NM_001042492.3

p.V820M

c.2458G>A

2 papers

NM_001042492.3

p.S818insFs

c.2452_2453insA

2 papers

NM_001042492.3

p.H819delFs

c.2455delC

1 paper

NM_001042492.3

p.S818fs

c.2452_2453fs

1 paper

NM_001042492.3

p.M817I

c.2451G>A

1 paper

NM_001042492.3

p.M817I

c.2451G>C