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.E169D

c.507A>C

Surrounding Variants

1 paper

NM_001042492.3

p.E169D

c.507A>T

1 paper

NM_001042492.3

p.D170_N184del15

c.508_551del45

1 paper

NM_001042492.3

p.E169_D170delFs

c.507_508delAG

1 paper

NM_001042492.3

p.D170N

c.508G>A

1 paper

NM_001042492.3

p.D170H

c.508G>C

1 paper

NM_001042492.3

p.D170insFs

c.509_510insAA

2 papers

NM_001042492.3

p.D170Y

c.508G>T

2 papers

NM_001042492.3

p.D170G

c.509A>G

1 paper

NM_001042492.3

p.D170delFs

c.510delC

3 papers

NM_001042492.3

p.E169*

c.505G>T

1 paper

NM_001042492.3

p.E169delFs

c.506delA

1 paper

NM_001042492.3

p.S168_E169insFs

c.504_505ins4