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.K1538delFs

c.4614delG

Surrounding Variants

1 paper

NM_001042492.3

p.K1538fs

c.4612_4613fs

1 paper

NM_001042492.3

p.K1538_M1539delFs

c.4614_4615delGA

4 papers

NM_001042492.3

p.K1538K

c.4614G>A

1 paper

NM_001042492.3

p.K1538delFs

c.4613delA

1 paper

NM_001042492.3

p.K1538delFs

c.4612_4613delAA

1 paper

NM_001042492.3

p.M1539K

c.4616T>A

1 paper

NM_001042492.3

p.M1539I

c.4617G>A

3 papers

NM_001042492.3

p.D1537H

c.4609G>C

1 paper

NM_001042492.3

p.M1539I

c.4617G>C

1 paper

NM_001042492.3

p.D1537Y

c.4609G>T

1 paper

NM_001042492.3

p.M1539I

c.4617G>T

1 paper

NM_001042492.3

p.A1540fs

c.4618_4619fs