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.Y2476F

c.7427A>T

Surrounding Variants

1 paper

NM_001042492.3

p.Y2476insFs

c.7427_7428insTC

4 papers

NM_000267.3

p.Y2455*

c.7365T>A

NM_001042492.3

p.Y2476*

c.7428T>A

4 papers

NM_000267.3

p.Y2455*

c.7365T>G

NM_001042492.3

p.Y2476*

c.7428T>G

2 papers

NM_000267.3

p.P2456S

c.7366C>T

NM_001042492.3

p.P2477S

c.7429C>T

1 paper

NM_001042492.3

p.T2475R

c.7424C>G

1 paper

NM_001042492.3

p.T2475A

c.7423A>G

1 paper

NM_001042492.3

p.D2474insFs

c.7422dupT

1 paper

NM_001042492.3

p.D2474fs

c.7420_7421fs

1 paper

NM_000267.3

p.H2458delFs

c.7372delC

1 paper

NM_001042492.3

p.H2479fs

c.7435_7436fs

1 paper

NM_001042492.3

p.H2479D

c.7435C>G

1 paper

NM_001042492.3

p.H2479delFs

c.7436delA