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.R1526Splc

c.4578-14T>G

Surrounding Variants

3 papers

NM_000267.3

p.R1505Splc

c.4515-19A>G

NM_001042492.3

p.R1526Splc

c.4578-19A>G

1 paper

NM_001042492.3

p.R1526Splc

c.4578-9T>A

1 paper

NM_001042492.3

p.R1526Splc

c.4578-8G>C

2 papers

NM_000267.3

p.R1505Splc

c.4515-21T>C

NM_001042492.3

p.R1526Splc

c.4578-21T>C

1 paper

NM_000267.3

p.R1505Splc

c.4515-21T>G

2 papers

NM_001042492.3

p.R1526Splc

c.4578-3T>G

5 papers

NM_000267.3

p.R1505Splc

c.4515-2A>G

1 paper

NM_000267.3

p.R1505Splc

c.4515-2A>T

1 paper

NM_001042492.3

p.D1527delFs

c.4579delG

3 papers

NM_000267.3

p.R1505Splc

c.4515-1G>A

NM_001042492.3

p.R1526Splc

c.4578-1G>A

1 paper

NM_001042492.3

p.R1526Splc

c.4578-1G>T

1 paper

NM_000267.3

p.R1505S

c.4515G>C