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

2 papers

NM_001042492.3

p.C622fs

c.1864_1865fs

Surrounding Variants

3 papers

NM_001042492.3

p.C622G

c.1864T>G

1 paper

NM_001042492.3

p.S621S

c.1863C>T

1 paper

NM_001042492.3

p.C622_S636del15

c.1864_1907del45

3 papers

NM_001042492.3

p.C622Y

c.1865G>A

2 papers

NM_001042492.3

p.C622F

c.1865G>T

2 papers

NM_001042492.3

p.S621F

c.1862C>T

2 papers

NM_001042492.3

p.C622*

c.1866T>A

1 paper

NM_001042492.3

p.H623insFs

c.1867_1868insC

3 papers

NM_001042492.3

p.H623Y

c.1867C>T

5 papers

NM_001042492.3

p.S621delFs

c.1862delC

1 paper

NM_001042492.3

p.H623R

c.1868A>G

1 paper

NM_001042492.3

p.F624_L625delFs

c.1871_1874del4