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.L953F

c.2859G>T

Surrounding Variants

1 paper

NM_001042492.3

p.L953F

c.2859G>C

2 papers

NM_001042492.3

p.L953*

c.2858T>A

1 paper

NM_001042492.3

p.T954_D955delFs

c.2862_2863delTG

1 paper

NM_001042492.3

p.L952F

c.2856A>C

1 paper

NM_001042492.3

p.L952F

c.2856A>T

1 paper

NM_001042492.3

p.L953_T956del4

c.2857_2867del12

1 paper

NM_001042492.3

p.D955fs

c.2863_2864fs

1 paper

NM_001042492.3

p.L952*

c.2855T>A

1 paper

NM_001042492.3

p.L952*

c.2855T>G

1 paper

NM_001042492.3

p.L952insFs

c.2856dupA

8 papers

NM_001042492.3

p.L952fs

c.2854_2855fs

9 papers

NM_001042492.3

p.L952fs

c.2854_2855fs