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.C454fs

c.1360_1361fs

Surrounding Variants

1 paper

NM_001042492.3

p.C454S

c.1360T>A

1 paper

NM_001042492.3

p.C454fs

c.1360_1361fs

3 papers

NM_001042492.3

p.C454Y

c.1361G>A

1 paper

NM_001042492.3

p.C454S

c.1361G>C

1 paper

NM_001042492.3

p.C454_G455delFs

c.1362_1365del4

1 paper

NM_001042492.3

p.C454_A459delFs

c.1362_1377del16

2 papers

NM_001042492.3

p.G453D

c.1358G>A

1 paper

NM_001042492.3

p.G453A

c.1358G>C

3 papers

NM_001042492.3

p.G453V

c.1358G>T

1 paper

NM_001042492.3

p.C454delFs

c.1360delT

1 paper

NM_001042492.3

p.C454C

c.1362T>C

1 paper

NM_001042492.3

p.G455delFs

c.1364delG