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.L94fs

c.280_281fs

Surrounding Variants

2 papers

NM_001042492.3

p.L94fs

c.280_281fs

1 paper

NM_001042492.3

p.L94insFs

c.281_282insT

4 papers

NM_001042492.3

p.L94F

c.280C>T

1 paper

NM_001042492.3

p.L94delFs

c.281delT

4 papers

NM_001042492.3

p.C93*

c.279T>A

3 papers

NM_001042492.3

p.L94P

c.281T>C

5 papers

NM_001042492.3

p.C93W

c.279T>G

1 paper

NM_001042492.3

p.C93_L94delins

c.279_280delinsAA

13 papers

NM_001042492.3

p.C93Y

c.278G>A

1 paper

NM_001042492.3

p.C93F

c.278G>T

2 papers

NM_001042492.3

p.C93delFs

c.279delT

1 paper

NM_001042492.3

p.L94_A95insFs

c.282_283insG