Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.R72C

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.R72C
c.214C>T
Surrounding Variants
1 paper
NM_006262.4
p.R72H
c.215G>A
1 paper
NM_006262.4
p.A69delFs
c.205delG
1 paper
NM_006262.4
p.G68insFs
c.203_204insC
1 paper
NM_006262.4
p.E76K
c.226G>A
2 papers
NM_006262.4
p.G68R
c.202G>C
1 paper
NM_006262.4
p.A67P
c.199G>C
1 paper
NM_006262.4
p.A65G
c.194C>G
1 paper
NM_006262.4
p.D79N
c.235G>A
2 papers
NM_006262.4
p.R64*
c.190C>T
1 paper
NM_006262.4
p.F80_S81delFs
c.240_241delCT
1 paper
NM_006262.4
p.P63P
c.189C>A
1 paper
NM_006262.4
p.M82_A83delFs
c.244_248del5
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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."