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.I23L

c.67A>C

Surrounding Variants

2 papers

NM_001042492.3

p.I23V

c.67A>G

1 paper

NM_001042492.3

p.I23L

c.67A>T

1 paper

NM_001042492.3

p.P22P

c.66A>G

1 paper

NM_001042492.3

p.I23delFs

c.68_69delTA

1 paper

NM_001042492.3

p.I23_T25delFs

c.68_75del8

1 paper

NM_001042492.3

p.I23K

c.68T>A

1 paper

NM_001042492.3

p.T25insFs

c.73dupA

2 papers

NM_001042492.3

p.I23delFs

c.69delA

2 papers

NM_001042492.3

p.I23M

c.69A>G

1 paper

NM_001042492.3

p.K24_T25delFs

c.71_75del5

1 paper

NM_001042492.3

p.P22insFs

c.66dupA

1 paper

NM_001042492.3

p.P22L

c.65C>T