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.T467delFs

c.1400_1401delCA

Surrounding Variants

13 papers

NM_001042492.3

p.T467insFs

c.1399_1400insA

2 papers

NM_001042492.3

p.L466_T467insFs

c.1398_1399insC

1 paper

NM_001042492.3

p.T467_E470del4

c.1399_1409del12

10 papers

NM_001042492.3

p.T467fs

c.1399_1400fs

1 paper

NM_001042492.3

p.T467P

c.1399A>C

1 paper

NM_001042492.3

p.T467S

c.1399A>T

1 paper

NM_001042492.3

p.T467delFs

c.1400delC

10 papers

NM_001042492.3

p.T467fs

c.1399_1400fs

1 paper

NM_001042492.3

p.T467K

c.1400C>A

1 paper

NM_001042492.3

p.L466_T467insFs

c.1398_1399insT

2 papers

NM_001042492.3

p.L466insFs

c.1397_1398dupTT

1 paper

NM_001042492.3

p.L466V

c.1396C>G