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.S521_A523insFs

c.1562_1569dup8

Surrounding Variants

1 paper

NM_001042492.3

p.G520R

c.1558G>C

1 paper

NM_001042492.3

p.G520D

c.1559G>A

3 papers

NM_001042492.3

p.G520A

c.1559G>C

1 paper

NM_001042492.3

p.G520_A523insFs

c.1560_1569dup10

4 papers

NM_001042492.3

p.Q519P

c.1556A>C

1 paper

NM_001042492.3

p.Q519R

c.1556A>G

1 paper

NM_001042492.3

p.G520_A523del4

c.1558_1568del12

1 paper

NM_001042492.3

p.S521delFs

c.1561delA

1 paper

NM_001042492.3

p.S521C

c.1561A>T

1 paper

NM_001042492.3

p.S521fs

c.1561_1562fs

1 paper

NM_001042492.3

p.Q519fs

c.1555_1556fs

12 papers

NM_001042492.3

p.Q519*

c.1555C>T