Varaico: Literature-Extracted Genetic Variants

NEFL

544 papers

RefSeq Summary

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber...

Pfam Domains

Filament_headaa 9–88UCSCIntermediate filament head (DNA binding) region

Filamentaa 89–399UCSCIntermediate filament protein

Gene Aliases

HGNC Name

neurofilament light chain

HGNC Alias Symbols

NFL; CMT1F; CMT2E; NF68; PPP1R110

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

60 papers

NM_006158.5

p.P22S

c.64C>T

Surrounding Variants

1 paper

NM_006158.5

p.P22A

c.64C>G

26 papers

NM_006158.5

p.P22T

c.64C>A

3 papers

NM_006158.5

p.T21fs

c.61_62fs

1 paper

NM_006158.5

p.P22L

c.65C>T

19 papers

NM_006158.5

p.P22R

c.65C>G

5 papers

NM_006158.5

p.T21fs

c.61_62fs

1 paper

NM_006158.5

p.R23W

c.67C>T

1 paper

NM_006158.5

p.R23G

c.67C>G

3 papers

NM_006158.5

p.T21A

c.61A>G

1 paper

NM_006158.5

p.R16_E20insFs

c.48_60dup13

1 paper

NM_006158.5

p.E20E

c.60G>A

1 paper

NM_006158.5

p.P22_R23delins

c.65_68delinsT