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.Y489S

c.1466A>C

Surrounding Variants

2 papers

NM_001042492.3

p.Y489insFs

c.1466_1467insC

1 paper

NM_001042492.3

p.Y489insFs

c.1467dupT

146 papers

NM_001042492.3

p.Y489C

c.1466A>G

1 paper

NM_001042492.3

p.Y489delFs

c.1467delT

1 paper

NM_001042492.3

p.K490_Y491delFs

c.1469_1472del4

1 paper

NM_001042492.3

p.K490_L492delFs

c.1468_1475del8

25 papers

NM_001042492.3

p.Y489*

c.1467T>A

1 paper

NM_001042492.3

p.Y489H

c.1465T>C

24 papers

NM_001042492.3

p.Y489*

c.1467T>G

1 paper

NM_001042492.3

p.Y489D

c.1465T>G

1 paper

NM_001042492.3

p.Y489insFs

c.1465_1466insC

5 papers

NM_001042492.3

p.Y489fs

c.1465_1466fs