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.L995_V996delFs

c.2984_2988del5

Surrounding Variants

1 paper

NM_001042492.3

p.N994insFs

c.2982dupT

2 papers

NM_001042492.3

p.N994delFs

c.2982delT

1 paper

NM_001042492.3

p.N994fs

c.2980_2981fs

1 paper

NM_001042492.3

p.N994Y

c.2980A>T

1 paper

NM_001042492.3

p.L995fs

c.2983_2984fs

1 paper

NM_001042492.3

p.L995fs

c.2983_2984fs

2 papers

NM_001042492.3

p.L993*

c.2978T>A

2 papers

NM_001042492.3

p.L995P

c.2984T>C

2 papers

NM_001042492.3

p.L993*

c.2978T>G

1 paper

NM_001042492.3

p.L995L

c.2985G>C

1 paper

NM_001042492.3

p.M992I

c.2976G>A

1 paper

NM_001042492.3

p.M992I

c.2976G>C