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.P464_S465Splc

c.1393-1G>C

Surrounding Variants

5 papers

NM_001042492.3

p.P464_S465Splc

c.1393-1G>A

1 paper

NM_001042492.3

p.P464_S465Splc

c.1393-1G>T

3 papers

NM_001042492.3

p.S465fs

c.1393_1394fs

1 paper

NM_001042492.3

p.P464_S465Splc

c.1393-2A>C

2 papers

NM_001042492.3

p.P464_S465Splc

c.1393-2A>G

2 papers

NM_001042492.3

p.S465G

c.1393A>G

1 paper

NM_001042492.3

p.P464_S465Splc

c.1393-2A>T

3 papers

NM_001042492.3

p.S465fs

c.1393_1394fs

2 papers

NM_001042492.3

p.S465N

c.1394G>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