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

10 papers

NM_001042492.3

p.L194R

c.581T>G

Surrounding Variants

4 papers

NM_001042492.3

p.L194P

c.581T>C

1 paper

NM_001042492.3

p.K195_E196delFs

c.583_586del4

1 paper

NM_001042492.3

p.L194fs

c.580_581fs

1 paper

NM_001042492.3

p.L194insFs

c.580_581ins40

1 paper

NM_001042492.3

p.L194L

c.582G>A

1 paper

NM_001042492.3

p.K195_E196ins4

c.583_587ins12

1 paper

NM_001042492.3

p.K195*

c.583A>T

1 paper

NM_001042492.3

p.L193L

c.579C>A

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.K195insFs

c.585dupG

1 paper

NM_001042492.3

p.K195T

c.584A>C