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.M1285fs

c.3853_3854fs

Surrounding Variants

1 paper

NM_001042492.3

p.M1285insFs

c.3853_3854insGG

1 paper

NM_001042492.3

p.M1285T

c.3854T>C

3 papers

NM_001042492.3

p.M1285I

c.3855G>A

3 papers

NM_001042492.3

p.M1285I

c.3855G>C

3 papers

NM_001042492.3

p.M1285I

c.3855G>T

1 paper

NM_001042492.3

p.I1284fs

c.3850_3851fs

1 paper

NM_001042492.3

p.I1284V

c.3850A>G

1 paper

NM_001042492.3

p.T1286I

c.3857C>T

1 paper

NM_001042492.3

p.F1287insFs

c.3860_3861insTT

1 paper

NM_001042492.3

p.K1283R

c.3848A>G

1 paper

NM_001042492.3

p.I1284_M1285del1

c.3852_3854delAAT

1 paper

NM_001042492.3

p.F1287delFs

c.3859delT