Varaico: Literature-Extracted Genetic Variants

Gene:NEFH

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
1–12 of 509 variants
16 papers
NM_021076.4
p.K31K
c.93G>A
14 papers
NM_021076.4
p.K651_E659del0
c.1952_1975del24
12 papers
NM_021076.4
p.P615L
c.1844C>T
12 papers
NM_021076.4
p.A646_K647ins6
c.1938_1939ins18
12 papers
NM_021076.4
p.E658_A660del0
c.1973_1978del6
12 papers
NM_021076.4
p.V670E
c.2009T>A
11 papers
NM_021076.4
p.E463K
c.1387G>A
11 papers
NM_021076.4
p.T642M
c.1925C>T
10 papers
NM_021076.4
p.G1019_K1020insFs
c.3057_3058insG
9 papers
NM_021076.4
p.K219_A220del1
c.657_659delGGC
9 papers
NM_021076.4
p.G249S
c.745G>A
9 papers
NM_021076.4
p.R352S
c.1054C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."