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.L687L

c.2061A>G

Surrounding Variants

1 paper

NM_001042492.3

p.E688Q

c.2062G>C

1 paper

NM_001042492.3

p.E688insFs

c.2064dupA

1 paper

NM_001042492.3

p.E688fs

c.2062_2063fs

3 papers

NM_001042492.3

p.E688*

c.2062G>T

1 paper

NM_001042492.3

p.E688insFs

c.2063_2064ins10

1 paper

NM_001042492.3

p.L687L

c.2059C>T

4 papers

NM_001042492.3

p.V689M

c.2065G>A

1 paper

NM_001042492.3

p.V689L

c.2065G>C

2 papers

NM_001042492.3

p.V689fs

c.2065_2066fs

1 paper

NM_001042492.3

p.V689L

c.2065G>T

3 papers

NM_001042492.3

p.V689delFs

c.2066delT

4 papers

NM_001042492.3

p.K686*

c.2056A>T