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.T1853fs

c.5557_5558fs

Surrounding Variants

1 paper

NM_001042492.3

p.T1853A

c.5557A>G

2 papers

NM_001042492.3

p.G1852G

c.5556G>A

1 paper

NM_001042492.3

p.G1852G

c.5556G>C

1 paper

NM_001042492.3

p.G1852A

c.5555G>C

1 paper

NM_001042492.3

p.G1852_L1860insFs

c.5556_5578dup23

1 paper

NM_000267.3

p.L1833P

c.5498T>C

1 paper

NM_000267.3

p.G1831insFs

c.5493dupG

1 paper

NM_001042492.3

p.G1852delFs

c.5556delG

1 paper

NM_000267.3

p.L1833delFs

c.5499delG

1 paper

NM_001042492.3

p.P1851H

c.5552C>A

3 papers

NM_000267.3

p.P1830R

c.5489C>G

NM_001042492.3

p.P1851R

c.5552C>G

2 papers

NM_000267.3

p.P1830L

c.5489C>T