Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.T332_N333Splc

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
5 papers
NM_006262.4
p.T332_N333Splc
c.996+1G>A
Surrounding Variants
1 paper
NM_006262.4
p.L329insFs
c.985_986insAC
1 paper
NM_006262.4
p.S321del1
c.961_963delAGT
2 papers
NM_006262.4
p.R316Q
c.947G>A
1 paper
NM_006262.4
p.R316_Q320del0
c.948_959del12
1 paper
NM_006262.4
p.S315_R316insT
c.943_947ins3
3 papers
NM_006262.4
p.E314_S315insFs
c.942_943insG
1 paper
NM_006262.4
p.Q310H
c.930G>T
2 papers
NM_006262.4
p.Q310R
c.929A>G
1 paper
NM_006262.4
p.Q310L
c.929A>T
1 paper
NM_006262.4
p.A304V
c.911C>T
1 paper
NM_006262.4
p.E334fs
c.1000_1001fs
3 papers
NM_006262.4
p.A304P
c.910G>C
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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."