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_000267.3

p.L1834fs

c.5500_5501fs

Surrounding Variants

2 papers

NM_001042492.3

p.L1855I

c.5563C>A

1 paper

NM_001042492.3

p.L1855_N1861del7

c.5563_5582del21

1 paper

NM_001042492.3

p.L1855P

c.5564T>C

1 paper

NM_001042492.3

p.L1855R

c.5564T>G

2 papers

NM_001042492.3

p.L1855_N1856del1

c.5565_5567delCAA

1 paper

NM_000267.3

p.L1833P

c.5498T>C

1 paper

NM_000267.3

p.L1833delFs

c.5499delG

1 paper

NM_001042492.3

p.N1856H

c.5566A>C

1 paper

NM_001042492.3

p.N1856T

c.5567A>C

1 paper

NM_001042492.3

p.N1856S

c.5567A>G

1 paper

NM_001042492.3

p.N1856K

c.5568T>A

1 paper

NM_001042492.3

p.N1856N

c.5568T>C