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

2 papers

NM_001042492.3

p.E1816*

c.5446G>T

Surrounding Variants

3 papers

NM_001042492.3

p.E1816K

c.5446G>A

3 papers

NM_001042492.3

p.E1816_C1817insFs

c.5448_5449insG

1 paper

NM_001042492.3

p.Q1815L

c.5444A>T

1 paper

NM_001042492.3

p.E1816_C1817insFs

c.5448_5449insC

8 papers

NM_000267.3

p.Q1794*

c.5380C>T

NM_001042492.3

p.Q1815*

c.5443C>T

1 paper

NM_001042492.3

p.C1817insFs

c.5449_5450insC

1 paper

NM_001042492.3

p.Q1815delFs

c.5443delC

1 paper

NM_001042492.3

p.C1817C

c.5451T>C

1 paper

NM_001042492.3

p.C1817_E1818insFs

c.5451_5452insC

1 paper

NM_001042492.3

p.H1814N

c.5440C>A

6 papers

NM_001042492.3

p.H1814Y

c.5440C>T

1 paper

NM_001042492.3

p.E1818insFs

c.5453_5454insA