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

2 papers

NM_001042492.3

p.T640fs

c.1918_1919fs

Surrounding Variants

1 paper

NM_001042492.3

p.T640insFs

c.1920dupC

1 paper

NM_001042492.3

p.T640A

c.1918A>G

2 papers

NM_001042492.3

p.T640S

c.1918A>T

1 paper

NM_001042492.3

p.T640delFs

c.1920delC

2 papers

NM_001042492.3

p.T640N

c.1919C>A

2 papers

NM_001042492.3

p.T640S

c.1919C>G

2 papers

NM_001042492.3

p.T640I

c.1919C>T

2 papers

NM_001042492.3

p.T640insFs

c.1918dupA

2 papers

NM_001042492.3

p.N639S

c.1916A>G

2 papers

NM_001042492.3

p.S641fs

c.1921_1922fs

1 paper

NM_001042492.3

p.N639H

c.1915A>C

1 paper

NM_001042492.3

p.S641R

c.1921A>C