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.I1307fs

c.3919_3920fs

Surrounding Variants

2 papers

NM_001042492.3

p.I1307_V1308insFs

c.3921_3922insT

1 paper

NM_001042492.3

p.I1307V

c.3919A>G

1 paper

NM_001042492.3

p.I1307delFs

c.3921delT

1 paper

NM_001042492.3

p.I1307_S1311del5

c.3919_3932del15

2 papers

NM_001042492.3

p.I1307N

c.3920T>A

9 papers

NM_001042492.3

p.R1306Q

c.3917G>A

1 paper

NM_001042492.3

p.I1307I

c.3921T>C

2 papers

NM_001042492.3

p.I1307M

c.3921T>G

92 papers

NM_001042492.3

p.R1306*

c.3916C>T

1 paper

NM_001042492.3

p.V1308L

c.3922G>C

1 paper

NM_001042492.3

p.V1308L

c.3922G>T

1 paper

NM_001042492.3

p.R1306_I1307del2

c.3916_3920del6