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.K615_Q616Splc

c.1846-2A>G

Surrounding Variants

11 papers

NM_001042492.3

p.Q616_G629delFs

c.1846_1886del41

1 paper

NM_001042492.3

p.K615_Q616Splc

c.1846-1G>A

2 papers

NM_001042492.3

p.K615_Q616Splc

c.1846-1G>T

3 papers

NM_001042492.3

p.Q616delFs

c.1846delC

1 paper

NM_001042492.3

p.Q616del1

c.1846_1848delCAG

3 papers

NM_001042492.3

p.Q616fs

c.1846_1847fs

4 papers

NM_001042492.3

p.Q616E

c.1846C>G

9 papers

NM_001042492.3

p.Q616*

c.1846C>T

8 papers

NM_001042492.3

p.Q616fs

c.1846_1847fs

1 paper

NM_001042492.3

p.Q616_G631delFs

c.1846_1891del46

1 paper

NM_001042492.3

p.Q616R

c.1847A>G

1 paper

NM_001042492.3

p.A617delFs

c.1849delG