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.T1310K

c.3929C>A

Surrounding Variants

1 paper

NM_001042492.3

p.T1310fs

c.3928_3929fs

2 papers

NM_001042492.3

p.T1310A

c.3928A>G

1 paper

NM_001042492.3

p.T1310S

c.3928A>T

2 papers

NM_001042492.3

p.S1311F

c.3932C>T

1 paper

NM_001042492.3

p.S1312delFs

c.3935_3936delCT

1 paper

NM_001042492.3

p.I1309N

c.3926T>A

1 paper

NM_001042492.3

p.I1309fs

c.3925_3926fs

1 paper

NM_001042492.3

p.I1309delFs

c.3925_3926delAT

1 paper

NM_001042492.3

p.S1312insFs

c.3936dupT

1 paper

NM_001042492.3

p.V1308E

c.3923T>A

1 paper

NM_001042492.3

p.V1308L

c.3922G>C

1 paper

NM_001042492.3

p.V1308L

c.3922G>T