Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.G159V

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.G159V
c.476G>T
Surrounding Variants
1 paper
NM_006262.4
p.D163D
c.489C>T
2 papers
NM_006262.4
p.R164W
c.490C>T
1 paper
NM_006262.4
p.V165A
c.494T>C
1 paper
NM_006262.4
p.V167_E168ins0
c.499_504dup6
1 paper
NM_006262.4
p.L151R
c.452T>G
1 paper
NM_006262.4
p.L151L
c.451C>T
1 paper
NM_006262.4
p.E150K
c.448G>A
1 paper
NM_006262.4
p.D170N
c.508G>A
1 paper
NM_006262.4
p.D170D
c.510C>T
1 paper
NM_006262.4
p.L172L
c.516G>T
1 paper
NM_006262.4
p.Q145H
c.435G>T
1 paper
NM_006262.4
p.C144*
c.432C>A
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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."