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.N730H

c.2188A>C

Surrounding Variants

4 papers

NM_001042492.3

p.N730Y

c.2188A>T

1 paper

NM_001042492.3

p.N730T

c.2189A>C

1 paper

NM_001042492.3

p.H729Q

c.2187T>A

1 paper

NM_001042492.3

p.H729Q

c.2187T>G

1 paper

NM_001042492.3

p.H729insFs

c.2187dupT

1 paper

NM_001042492.3

p.H729fs

c.2185_2186fs

1 paper

NM_001042492.3

p.L731F

c.2191C>T

1 paper

NM_001042492.3

p.L732delFs

c.2195delT

2 papers

NM_001042492.3

p.V728G

c.2183T>G

1 paper

NM_001042492.3

p.V728_N736delFs

c.2184_2206del23

1 paper

NM_001042492.3

p.L732fs

c.2194_2195fs

1 paper

NM_001042492.3

p.L732fs

c.2194_2195fs