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_001042492.3

p.I2466V

c.7396A>G

Surrounding Variants

1 paper

NM_001042492.3

p.I2466fs

c.7396_7397fs

3 papers

NM_001042492.3

p.D2465E

c.7395T>A

1 paper

NM_001042492.3

p.I2466T

c.7397T>C

2 papers

NM_001042492.3

p.D2465E

c.7395T>G

2 papers

NM_000267.3

p.I2445insFs

c.7333dupA

NM_001042492.3

p.I2466insFs

c.7396dupA

2 papers

NM_001042492.3

p.D2465_M2468delFs

c.7395_7404del10

1 paper

NM_000267.3

p.S2446delFs

c.7337delC

5 papers

NM_000267.3

p.S2446*

c.7337C>A

NM_001042492.3

p.S2467*

c.7400C>A

5 papers

NM_000267.3

p.S2446*

c.7337C>G

NM_001042492.3

p.S2467*

c.7400C>G

1 paper

NM_001042492.3

p.T2464T

c.7392T>A

1 paper

NM_001042492.3

p.T2464delFs

c.7392delT

1 paper

NM_001042492.3

p.M2468V

c.7402A>G