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

3 papers

NM_000267.3

p.D1828Y

c.5482G>T

NM_001042492.3

p.D1849Y

c.5545G>T

Surrounding Variants

6 papers

NM_000267.3

p.D1828N

c.5482G>A

NM_001042492.3

p.D1849N

c.5545G>A

1 paper

NM_001042492.3

p.D1849fs

c.5545_5546fs

5 papers

NM_000267.3

p.D1828V

c.5483A>T

1 paper

NM_001042492.3

p.D1849_P1851delFs

c.5547_5551del5

1 paper

NM_001042492.3

p.V1850D

c.5549T>A

3 papers

NM_001042492.3

p.P1851insFs

c.5552dupC

NM_000267.3

p.P1830insFs

c.5489dupC

1 paper

NM_001042492.3

p.P1847L

c.5540C>T

1 paper

NM_001042492.3

p.P1851fs

c.5551_5552fs

1 paper

NM_001042492.3

p.P1847A

c.5539C>G

6 papers

NM_001042492.3

p.P1851S

c.5551C>T

NM_000267.3

p.P1830S

c.5488C>T

1 paper

NM_001042492.3

p.P1847fs

c.5539_5540fs

1 paper

NM_001042492.3

p.P1851_G1852delFs

c.5552_5556del5