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

2 papers

NM_000267.3

p.R1849Splc

c.5546+1G>C

Surrounding Variants

8 papers

NM_000267.3

p.R1849Splc

c.5546+1G>A

NM_001042492.3

p.R1870Splc

c.5609+1G>A

4 papers

NM_001042492.3

p.R1870Splc

c.5609+1G>T

NM_000267.3

p.R1849Splc

c.5546+1G>T

38 papers

NM_000267.3

p.R1849Q

c.5546G>A

NM_001042492.3

p.R1870Q

c.5609G>A

4 papers

NM_000267.3

p.R1849L

c.5546G>T

NM_001042492.3

p.R1870L

c.5609G>T

1 paper

NM_001042492.3

p.R1870Splc

c.5609+2T>A

4 papers

NM_000267.3

p.R1849Splc

c.5546+2T>C

NM_001042492.3

p.R1870Splc

c.5609+2T>C

1 paper

NM_001042492.3

p.R1870Splc

c.5609+3A>G

2 papers

NM_001042492.3

p.R1870insFs

c.5609dupG

5 papers

NM_001042492.3

p.R1870W

c.5608C>T

1 paper

NM_001042492.3

p.R1870delFs

c.5608_5609delCG

2 papers

NM_000267.3

p.R1849Splc

c.5546+5G>A

2 papers

NM_000267.3

p.R1849Splc

c.5546+5G>C