Varaico: Literature-Extracted Genetic Variants

NEFH

502 papers

RefSeq Summary

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

Pfam Domains

Filamentaa 96–412UCSCIntermediate filament protein

DUF1388aa 535–561UCSCRepeat of unknown function (DUF1388)

DUF1388aa 590–610UCSCRepeat of unknown function (DUF1388)

Gene Aliases

HGNC Name

neurofilament heavy chain

HGNC Alias Symbols

NF-H; NFH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_021076.4

p.K31K

c.93G>A

Surrounding Variants

3 papers

NM_021076.4

p.K31N

c.93G>C

1 paper

NM_021076.4

p.G32R

c.94G>C

1 paper

NM_021076.4

p.G33insFs

c.97_98insG

1 paper

NM_021076.4

p.G33insFs

c.98_99insA

1 paper

NM_021076.4

p.A34delFs

c.102delA

1 paper

NM_021076.4

p.L28R

c.83T>G

1 paper

NM_021076.4

p.L28_R30del0

c.83_88del6

1 paper

NM_021076.4

p.G36R

c.106G>C

1 paper

NM_021076.4

p.Y26C

c.77A>G

1 paper

NM_021076.4

p.H25R

c.74A>G

1 paper

NM_021076.4

p.L24F

c.70C>T

1 paper

NM_021076.4

p.A40V

c.119C>T