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.F406_H407delFs

c.1218_1219delTC

Surrounding Variants

1 paper

NM_001042492.3

p.F406L

c.1218T>A

1 paper

NM_001042492.3

p.F406L

c.1216T>C

1 paper

NM_001042492.3

p.F406L

c.1218T>G

2 papers

NM_001042492.3

p.F406delFs

c.1218delT

1 paper

NM_001042492.3

p.H407fs

c.1219_1220fs

1 paper

NM_001042492.3

p.H407Y

c.1219C>T

1 paper

NM_001042492.3

p.H407delFs

c.1220delA

1 paper

NM_001042492.3

p.H407L

c.1220A>T

3 papers

NM_001042492.3

p.T405I

c.1214C>T

1 paper

NM_001042492.3

p.T405delFs

c.1215delA

2 papers

NM_001042492.3

p.T405A

c.1213A>G

1 paper

NM_001042492.3

p.T405S

c.1213A>T