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.Q1298R

c.3893A>G

Surrounding Variants

1 paper

NM_001042492.3

p.Q1298insFs

c.3892_3893insA

8 papers

NM_001042492.3

p.Q1298*

c.3892C>T

2 papers

NM_001042492.3

p.K1299delFs

c.3897delA

2 papers

NM_001042492.3

p.Q1298fs

c.3892_3893fs

1 paper

NM_001042492.3

p.K1299fs

c.3895_3896fs

1 paper

NM_001042492.3

p.Q1298_D1302del5

c.3892_3905del15

1 paper

NM_001042492.3

p.L1300fs

c.3898_3899fs

1 paper

NM_001042492.3

p.L1300fs

c.3898_3899fs

6 papers

NM_001042492.3

p.Y1296*

c.3888T>A

6 papers

NM_001042492.3

p.Y1296*

c.3888T>G

1 paper

NM_001042492.3

p.L1300P

c.3899T>C

1 paper

NM_001042492.3

p.L1301_P1303del3

c.3901_3908del9