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.R816Fs

c.2448delinsTTTACTTAGGTFs

Surrounding Variants

1 paper

NM_001042492.3

p.M817L

c.2449A>C

3 papers

NM_001042492.3

p.R816Q

c.2447G>A

1 paper

NM_001042492.3

p.M817insFs

c.2449dupA

99 papers

NM_001042492.3

p.R816*

c.2446C>T

1 paper

NM_001042492.3

p.M817_S818insFs

c.2451_2452insG

1 paper

NM_001042492.3

p.M817I

c.2451G>A

1 paper

NM_001042492.3

p.M817I

c.2451G>C

1 paper

NM_001042492.3

p.M817I

c.2451G>T

1 paper

NM_001042492.3

p.S818_D827del10

c.2452_2480del30

1 paper

NM_001042492.3

p.R815K

c.2444G>A

2 papers

NM_001042492.3

p.S818insFs

c.2452_2453insA

2 papers

NM_001042492.3

p.H819delFs

c.2455delC