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.I581T

c.1742T>C

Surrounding Variants

2 papers

NM_001042492.3

p.I581S

c.1742T>G

2 papers

NM_001042492.3

p.I581insFs

c.1742_1743insA

5 papers

NM_001042492.3

p.I581insFs

c.1742dupT

1 paper

NM_001042492.3

p.I581L

c.1741A>C

3 papers

NM_001042492.3

p.I581V

c.1741A>G

1 paper

NM_001042492.3

p.I581M

c.1743C>G

2 papers

NM_001042492.3

p.C582S

c.1744T>A

2 papers

NM_001042492.3

p.C582R

c.1744T>C

2 papers

NM_001042492.3

p.C582G

c.1744T>G

3 papers

NM_001042492.3

p.C582fs

c.1744_1745fs

1 paper

NM_001042492.3

p.C582Y

c.1745G>A

2 papers

NM_001042492.3

p.C582S

c.1745G>C