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.K598N

c.1794G>C

Surrounding Variants

1 paper

NM_001042492.3

p.K598N

c.1794G>T

1 paper

NM_001042492.3

p.K598T

c.1793A>C

1 paper

NM_001042492.3

p.K598R

c.1793A>G

1 paper

NM_001042492.3

p.W599delFs

c.1795_1796delTG

1 paper

NM_001042492.3

p.W599del1

c.1795_1796delTGG

1 paper

NM_001042492.3

p.W599R

c.1795T>A

1 paper

NM_001042492.3

p.W599R

c.1795T>C

1 paper

NM_001042492.3

p.K598Q

c.1792A>C

2 papers

NM_001042492.3

p.K598*

c.1792A>T

10 papers

NM_001042492.3

p.W599*

c.1796G>A

12 papers

NM_001042492.3

p.W599*

c.1797G>A

1 paper

NM_001042492.3

p.L597H

c.1790T>A