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

5 papers

NM_001042492.3

p.L194delFs

c.580delC

Surrounding Variants

1 paper

NM_001042492.3

p.L193P

c.578T>C

1 paper

NM_001042492.3

p.L193_L194delFs

c.579_580delCC

3 papers

NM_001042492.3

p.L193I

c.577C>A

1 paper

NM_001042492.3

p.L193L

c.579C>A

1 paper

NM_001042492.3

p.L193F

c.577C>T

1 paper

NM_001042492.3

p.L194delFs

c.580_581delCT

1 paper

NM_001042492.3

p.L194del1

c.580_581delCTG

1 paper

NM_001042492.3

p.R192R

c.576A>G

1 paper

NM_001042492.3

p.L193_L194del1

c.579_581delCCT

1 paper

NM_001042492.3

p.L194fs

c.580_581fs

1 paper

NM_001042492.3

p.L194insFs

c.580_581ins40

9 papers

NM_001042492.3

p.R192Q

c.575G>A