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.G842fs

c.2524_2525fs

Surrounding Variants

2 papers

NM_001042492.3

p.G842S

c.2524G>A

2 papers

NM_001042492.3

p.G842_L844delins

c.2524_2531delinsAGCTTCCA

2 papers

NM_001042492.3

p.G842delFs

c.2526delC

1 paper

NM_001042492.3

p.T841_G842insFs

c.2523_2524insT

4 papers

NM_001042492.3

p.T841P

c.2521A>C

1 paper

NM_001042492.3

p.F843fs

c.2527_2528fs

1 paper

NM_001042492.3

p.F843fs

c.2527_2528fs

1 paper

NM_001042492.3

p.C845_L847del0

c.2533_2541del9

1 paper

NM_001042492.3

p.M840V

c.2518A>G

1 paper

NM_001042492.3

p.L844I

c.2530C>A

1 paper

NM_001042492.3

p.L844fs

c.2530_2531fs

1 paper

NM_001042492.3

p.L844V

c.2530C>G