Varaico: Literature-Extracted Genetic Variants

Gene:NEFM
Variant:p.G697R

NEFM

211 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

Filament_headaa 9–99UCSCIntermediate filament head (DNA binding) region
Filamentaa 100–411UCSCIntermediate filament protein

Gene Aliases

HGNC Name

neurofilament medium chain

HGNC Previous Symbol

NEF3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005382.2
p.G697R
c.2089G>C
Surrounding Variants
3 papers
NM_005382.2
p.G697R
c.2089G>A
1 paper
NM_005382.2
p.S692A
c.2074T>G
1 paper
NM_005382.2
p.K702_E704delFs
c.2106_2110del5
1 paper
NM_005382.2
p.E705Q
c.2113G>C
1 paper
NM_005382.2
p.V709A
c.2126T>C
1 paper
NM_005382.2
p.K684delFs
c.2052delA
1 paper
NM_005382.2
p.E715G
c.2144A>G
1 paper
NM_005382.2
p.V718I
c.2152G>A
2 papers
NM_005382.2
p.V718A
c.2153T>C
1 paper
NM_005382.2
p.K721delFs
c.2162delA
1 paper
NM_005382.2
p.K721R
c.2162A>G
1 paper
NM_005382.2
p.S672*
c.2015C>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."