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.Q181L

c.542A>T

Surrounding Variants

2 papers

NM_001042492.3

p.Q181R

c.542A>G

1 paper

NM_001042492.3

p.Q181_Y182delFs

c.543_546del4

2 papers

NM_001042492.3

p.Q181insFs

c.541_542insA

1 paper

NM_001042492.3

p.Q181fs

c.541_542fs

2 papers

NM_001042492.3

p.Q181E

c.541C>G

16 papers

NM_001042492.3

p.Q181*

c.541C>T

3 papers

NM_001042492.3

p.Q181fs

c.541_542fs

1 paper

NM_001042492.3

p.Q181H

c.543G>C

1 paper

NM_001042492.3

p.I183insFs

c.547_548dupAT

1 paper

NM_001042492.3

p.Q181H

c.543G>T

2 papers

NM_001042492.3

p.I183delFs

c.547_548delAT

1 paper

NM_001042492.3

p.Y182_N184delFs

c.544_550del7