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.D173N

c.517G>A

Surrounding Variants

1 paper

NM_001042492.3

p.D173H

c.517G>C

1 paper

NM_001042492.3

p.D173insFs

c.518_519insA

1 paper

NM_001042492.3

p.D173fs

c.517_518fs

2 papers

NM_001042492.3

p.D173Y

c.517G>T

1 paper

NM_001042492.3

p.D173fs

c.517_518fs

1 paper

NM_001042492.3

p.V174_H175del2

c.520_524del6

2 papers

NM_001042492.3

p.D173V

c.518A>T

1 paper

NM_001042492.3

p.V174_H175delFs

c.520_523del4

3 papers

NM_001042492.3

p.V172I

c.514G>A

3 papers

NM_001042492.3

p.V174I

c.520G>A

1 paper

NM_001042492.3

p.V172insFs

c.514_515insCA

1 paper

NM_001042492.3

p.V172insFs

c.514_515ins4