Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.E215K

PRPH

296 papers

RefSeq Summary

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins...

Pfam Domains

Filament_headaa 12–95UCSCIntermediate filament head (DNA binding) region
Filamentaa 96–406UCSCIntermediate filament protein

Gene Aliases

HGNC Name

peripherin

HGNC Previous Symbol

NEF4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006262.4
p.E215K
c.643G>A
Surrounding Variants
2 papers
NM_006262.4
p.R216C
c.646C>T
3 papers
NM_006262.4
p.E213delFs
c.637_638delGA
1 paper
NM_006262.4
p.K217N
c.651G>T
1 paper
NM_006262.4
p.L212L
c.634C>T
2 papers
NM_006262.4
p.S210C
c.629C>G
1 paper
NM_006262.4
p.E219D
c.657G>C
1 paper
NM_006262.4
p.S220insFs
c.658_659ins4
1 paper
NM_006262.4
p.E219D
c.657G>T
1 paper
NM_006262.4
p.L209fs
c.625_626fs
2 papers
NM_006262.4
p.T208insFs
c.623_624insG
1 paper
NM_006262.4
p.M222V
c.664A>G
1 paper
NM_006262.4
p.A207_L209delins
c.620_627delinsTA
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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."