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.P22delFs

c.64_65delCC

Surrounding Variants

2 papers

NM_001042492.3

p.P22T

c.64C>A

1 paper

NM_001042492.3

p.P22_I23insTG

c.64_68ins6

1 paper

NM_001042492.3

p.P22A

c.64C>G

4 papers

NM_001042492.3

p.P22S

c.64C>T

1 paper

NM_001042492.3

p.P22fs

c.64_65fs

3 papers

NM_001042492.3

p.L21H

c.62T>A

5 papers

NM_001042492.3

p.L21P

c.62T>C

4 papers

NM_001042492.3

p.L21R

c.62T>G

2 papers

NM_001042492.3

p.L21I

c.61C>A

1 paper

NM_001042492.3

p.P22insFs

c.66dupA

1 paper

NM_001042492.3

p.L21fs

c.61_62fs

1 paper

NM_001042492.3

p.L21insFs

c.63dupT