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.L1246L

c.3738G>A

Surrounding Variants

2 papers

NM_001042492.3

p.F1247_D1248insFs

c.3741_3742insT

2 papers

NM_001042492.3

p.F1247I

c.3739T>A

2 papers

NM_001042492.3

p.F1247L

c.3739T>C

1 paper

NM_001042492.3

p.L1246P

c.3737T>C

13 papers

NM_001042492.3

p.F1247fs

c.3739_3740fs

18 papers

NM_001042492.3

p.F1247fs

c.3739_3740fs

6 papers

NM_001042492.3

p.L1246fs

c.3736_3737fs

2 papers

NM_001042492.3

p.L1246V

c.3736C>G

3 papers

NM_001042492.3

p.L1246delFs

c.3737delT

3 papers

NM_001042492.3

p.L1246fs

c.3736_3737fs

26 papers

NM_001042492.3

p.F1247_D1248delFs

c.3739_3742del4

2 papers

NM_001042492.3

p.F1247L

c.3741T>A