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.Y182_I183insFs

c.546_547insT

Surrounding Variants

3 papers

NM_001042492.3

p.Y182C

c.545A>G

1 paper

NM_001042492.3

p.Y182F

c.545A>T

1 paper

NM_001042492.3

p.Y182*

c.546T>A

1 paper

NM_001042492.3

p.Y182D

c.544T>G

1 paper

NM_001042492.3

p.Y182*

c.546T>G

1 paper

NM_001042492.3

p.Y182fs

c.544_545fs

1 paper

NM_001042492.3

p.Y182delFs

c.545delA

3 papers

NM_001042492.3

p.Y182fs

c.544_545fs

1 paper

NM_001042492.3

p.I183_N184delFs

c.549_552del4

1 paper

NM_001042492.3

p.I183_V185del3

c.547_554del9

3 papers

NM_001042492.3

p.I183fs

c.547_548fs

1 paper

NM_001042492.3

p.Q181H

c.543G>C