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.C1817C

c.5451T>C

Surrounding Variants

1 paper

NM_001042492.3

p.C1817_E1818insFs

c.5451_5452insC

1 paper

NM_001042492.3

p.E1818insFs

c.5453_5454insA

1 paper

NM_001042492.3

p.E1818*

c.5452G>T

1 paper

NM_001042492.3

p.C1817insFs

c.5449_5450insC

1 paper

NM_001042492.3

p.E1816_C1817insFs

c.5448_5449insC

3 papers

NM_001042492.3

p.E1816_C1817insFs

c.5448_5449insG

1 paper

NM_001042492.3

p.A1819T

c.5455G>A

1 paper

NM_001042492.3

p.A1819G

c.5456C>G

3 papers

NM_001042492.3

p.E1816K

c.5446G>A

2 papers

NM_001042492.3

p.E1816*

c.5446G>T

1 paper

NM_001042492.3

p.I1820L

c.5458A>C

1 paper

NM_001042492.3

p.I1820V

c.5458A>G