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.K1290_V1291Splc

c.3871-58T>C

Surrounding Variants

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-39G>A

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-34G>C

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-31A>G

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-15C>T

3 papers

NM_001042492.3

p.K1290_V1291Splc

c.3871-13T>A

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-4G>A

1 paper

NM_001042492.3

p.K1290_V1291Splc

c.3871-3T>G

3 papers

NM_001042492.3

p.K1290_V1291Splc

c.3871-2A>G

2 papers

NM_001042492.3

p.K1290_V1291Splc

c.3871-1G>A

3 papers

NM_001042492.3

p.K1290_V1291Splc

c.3871-1G>C

2 papers

NM_001042492.3

p.K1290_V1291Splc

c.3871-1G>T

1 paper

NM_001042492.3

p.V1291fs

c.3871_3872fs