Varaico: Literature-Extracted Genetic Variants

INA

135 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 10–92UCSCIntermediate filament head (DNA binding) region

Filamentaa 93–406UCSCIntermediate filament protein

Gene Aliases

HGNC Name

internexin neuronal intermediate filament protein alpha

HGNC Previous Symbol

NEF5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_032727.4

p.S433R

c.1299T>G

Surrounding Variants

2 papers

NM_032727.4

p.S433R

c.1299T>A

2 papers

NM_032727.4

p.S433R

c.1297A>C

1 paper

NM_032727.4

p.I431L

c.1291A>C

1 paper

NM_032727.4

p.K438Q

c.1312A>C

1 paper

NM_032727.4

p.T442I

c.1325C>T

5 papers

NM_032727.4

p.E449del1

c.1345_1347delGAG

1 paper

NM_032727.4

p.E449A

c.1346A>C

1 paper

NM_032727.4

p.T405K

c.1214C>A

1 paper

NM_032727.4

p.E401K

c.1201G>A

1 paper

NM_032727.4

p.L474V

c.1420T>G

2 papers

NM_032727.4

p.K483Q

c.1447A>C

1 paper

NM_032727.4

p.E491K

c.1471G>A