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.K189fs

c.565_566fs

Surrounding Variants

1 paper

NM_001042492.3

p.K189Q

c.565A>C

2 papers

NM_001042492.3

p.K189E

c.565A>G

6 papers

NM_001042492.3

p.K189*

c.565A>T

1 paper

NM_001042492.3

p.K189_L190delFs

c.567_568delAT

1 paper

NM_001042492.3

p.K189_L190insFs

c.567_568ins4

1 paper

NM_001042492.3

p.K189N

c.567A>C

1 paper

NM_001042492.3

p.K189K

c.567A>G

1 paper

NM_001042492.3

p.K189N

c.567A>T

1 paper

NM_001042492.3

p.L190delFs

c.568delT

12 papers

NM_001042492.3

p.A188E

c.563C>A

1 paper

NM_001042492.3

p.A188G

c.563C>G

3 papers

NM_001042492.3

p.A188V

c.563C>T