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.Y2642insFs

c.7926dupC

Surrounding Variants

2 papers

NM_001042492.3

p.Y2642_L2643insFs

c.7926_7927insT

1 paper

NM_001042492.3

p.Y2642delFs

c.7924delT

1 paper

NM_000267.3

p.L2622_A2623insA

c.7864_7868ins3

1 paper

NM_001042492.3

p.E2641V

c.7922A>T

1 paper

NM_001042492.3

p.E2641K

c.7921G>A

2 papers

NM_001042492.3

p.E2641*

c.7921G>T

2 papers

NM_001042492.3

p.A2644T

c.7930G>A

2 papers

NM_001042492.3

p.Y2640*

c.7920T>A

2 papers

NM_001042492.3

p.Y2640*

c.7920T>G

2 papers

NM_001042492.3

p.E2641insFs

c.7921dupG

1 paper

NM_001042492.3

p.E2641del1

c.7921_7922delGAA

1 paper

NM_000267.3

p.A2623E

c.7868C>A