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

4 papers

NM_001042492.3

p.N957I

c.2870A>T

Surrounding Variants

1 paper

NM_001042492.3

p.N957S

c.2870A>G

2 papers

NM_001042492.3

p.N957fs

c.2869_2870fs

1 paper

NM_001042492.3

p.N957fs

c.2869_2870fs

2 papers

NM_001042492.3

p.T958S

c.2872A>T

2 papers

NM_001042492.3

p.N957delFs

c.2870delA

2 papers

NM_001042492.3

p.T958S

c.2873C>G

1 paper

NM_001042492.3

p.T956S

c.2867C>G

1 paper

NM_001042492.3

p.T956fs

c.2866_2867fs

1 paper

NM_001042492.3

p.T956S

c.2866A>T

1 paper

NM_001042492.3

p.T956fs

c.2866_2867fs

1 paper

NM_001042492.3

p.Q959insFs

c.2875_2876insA

12 papers

NM_001042492.3

p.Q959*

c.2875C>T