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.Y2240insFs

c.6718_6719ins17

Surrounding Variants

1 paper

NM_001042492.3

p.Q2239Q

c.6717A>G

1 paper

NM_001042492.3

p.Y2240_N2241insFs

c.6720_6721dupTA

1 paper

NM_000267.3

p.Y2219_N2220insFs

c.6655_6658dup4

1 paper

NM_001042492.3

p.Q2239L

c.6716A>T

1 paper

NM_001042492.3

p.Y2240*

c.6720T>A

1 paper

NM_001042492.3

p.Y2240*

c.6720T>G

1 paper

NM_001042492.3

p.N2241fs

c.6721_6722fs

11 papers

NM_001042492.3

p.Q2239*

c.6715C>T

NM_000267.3

p.Q2218*

c.6652C>T

1 paper

NM_001042492.3

p.F2238S

c.6713T>C

1 paper

NM_001042492.3

p.F2238_Q2239delFs

c.6714_6715delCC

8 papers

NM_001042492.3

p.P2242S

c.6724C>T

1 paper

NM_001042492.3

p.F2238I

c.6712T>A