Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.A304P

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
3 papers
NM_006262.4
p.A304P
c.910G>C
Surrounding Variants
1 paper
NM_006262.4
p.A304V
c.911C>T
1 paper
NM_006262.4
p.H302_E303delFs
c.906_907delCG
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.Q310H
c.930G>T
1 paper
NM_006262.4
p.S295S
c.885C>T
3 papers
NM_006262.4
p.E314_S315insFs
c.942_943insG
1 paper
NM_006262.4
p.S315_R316insT
c.943_947ins3
1 paper
NM_006262.4
p.A292E
c.875C>A
1 paper
NM_006262.4
p.Y291_A292insFs
c.873_874insT
2 papers
NM_006262.4
p.R316Q
c.947G>A
1 paper
NM_006262.4
p.R316_Q320del0
c.948_959del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."