Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.S33insFs

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.S33insFs
c.97_98insG
Surrounding Variants
1 paper
NM_006262.4
p.Y34_S36del0
c.101_106del6
2 papers
NM_006262.4
p.F32_S33insFs
c.96_97insC
2 papers
NM_006262.4
p.Y34H
c.100T>C
2 papers
NM_006262.4
p.S35L
c.104C>T
1 paper
NM_006262.4
p.A31delFs
c.91delG
1 paper
NM_006262.4
p.P25T
c.73C>A
1 paper
NM_006262.4
p.P25S
c.73C>T
2 papers
NM_006262.4
p.P24P
c.72G>C
1 paper
NM_006262.4
p.P23A
c.67C>G
1 paper
NM_006262.4
p.R44C
c.130C>T
2 papers
NM_006262.4
p.F21F
c.63C>T
1 paper
NM_006262.4
p.L45L
c.133C>T
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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."