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

3 papers

NM_001042492.3

p.K490*

c.1468A>T

Surrounding Variants

3 papers

NM_001042492.3

p.K490E

c.1468A>G

2 papers

NM_001042492.3

p.K490fs

c.1468_1469fs

1 paper

NM_001042492.3

p.K490_Y491insFs

c.1470_1471ins5

2 papers

NM_001042492.3

p.K490R

c.1469A>G

1 paper

NM_001042492.3

p.K490M

c.1469A>T

25 papers

NM_001042492.3

p.Y489*

c.1467T>A

24 papers

NM_001042492.3

p.Y489*

c.1467T>G

2 papers

NM_001042492.3

p.Y489insFs

c.1466_1467insC

1 paper

NM_001042492.3

p.Y489insFs

c.1467dupT

3 papers

NM_001042492.3

p.Y489S

c.1466A>C

146 papers

NM_001042492.3

p.Y489C

c.1466A>G

1 paper

NM_001042492.3

p.Y489delFs

c.1467delT