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.I596M

c.1788T>G

Surrounding Variants

1 paper

NM_001042492.3

p.L597fs

c.1789_1790fs

6 papers

NM_001042492.3

p.L597V

c.1789C>G

1 paper

NM_001042492.3

p.L597F

c.1789C>T

1 paper

NM_001042492.3

p.I596insFs

c.1788dupT

1 paper

NM_001042492.3

p.L597H

c.1790T>A

1 paper

NM_001042492.3

p.L597P

c.1790T>C

4 papers

NM_001042492.3

p.L597R

c.1790T>G

1 paper

NM_001042492.3

p.E595D

c.1785A>C

1 paper

NM_001042492.3

p.E595E

c.1785A>G

1 paper

NM_001042492.3

p.E595D

c.1785A>T

1 paper

NM_001042492.3

p.K598Q

c.1792A>C

2 papers

NM_001042492.3

p.E595G

c.1784A>G