Varaico: Literature-Extracted Genetic Variants

Gene:PRPH

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
1–12 of 242 variants
19 papers
NM_006262.4
p.D141Y
c.421G>T
12 papers
NM_006262.4
p.R133P
c.398G>C
9 papers
NM_006262.4
p.R9Q
c.26G>A
7 papers
NM_006262.4
p.A277T
c.829G>A
5 papers
NM_006262.4
p.L46L
c.136C>T
5 papers
NM_006262.4
p.T93S
c.277A>T
5 papers
NM_006262.4
p.T332_N333Splc
c.996+1G>A
3 papers
NM_006262.4
p.F12_S13insFs
c.36_37insA
3 papers
NM_006262.4
p.N87S
c.260A>G
3 papers
NM_006262.4
p.E89K
c.265G>A
3 papers
NM_006262.4
p.L118M
c.352C>A
3 papers
NM_006262.4
p.E213delFs
c.637_638delGA
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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."