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.M968fs

c.2902_2903fs

Surrounding Variants

1 paper

NM_001042492.3

p.M968K

c.2903T>A

6 papers

NM_001042492.3

p.M968R

c.2903T>G

1 paper

NM_001042492.3

p.M968I

c.2904G>A

1 paper

NM_001042492.3

p.M968I

c.2904G>C

1 paper

NM_001042492.3

p.M968I

c.2904G>T

1 paper

NM_001042492.3

p.M968insFs

c.2902dupA

1 paper

NM_001042492.3

p.K969fs

c.2905_2906fs

3 papers

NM_001042492.3

p.I967V

c.2899A>G

1 paper

NM_001042492.3

p.N970_L971del2

c.2908_2912del6

1 paper

NM_001042492.3

p.A966insFs

c.2898dupT

1 paper

NM_001042492.3

p.K969N

c.2907G>C

1 paper

NM_001042492.3

p.K969N

c.2907G>T