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.F17delFs

c.50delT

Surrounding Variants

1 paper

NM_001042492.3

p.R16R

c.48C>T

2 papers

NM_001042492.3

p.R16H

c.47G>A

7 papers

NM_001042492.3

p.R16P

c.47G>C

1 paper

NM_001042492.3

p.F17del1

c.49_50delTTC

1 paper

NM_001042492.3

p.F17I

c.49T>A

1 paper

NM_001042492.3

p.F17L

c.49T>C

1 paper

NM_001042492.3

p.F17V

c.49T>G

1 paper

NM_001042492.3

p.F17ins1

c.49_50insTGG

2 papers

NM_001042492.3

p.R16insFs

c.47_48insG

1 paper

NM_001042492.3

p.R16insFs

c.47_48insTG

2 papers

NM_001042492.3

p.R16G

c.46C>G

4 papers

NM_001042492.3

p.R16C

c.46C>T