Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.G134S

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
2 papers
NM_006262.4
p.G134S
c.400G>A
Surrounding Variants
1 paper
NM_006262.4
p.G134R
c.400G>C
12 papers
NM_006262.4
p.R133P
c.398G>C
2 papers
NM_006262.4
p.Q135*
c.403C>T
1 paper
NM_006262.4
p.E136G
c.407A>G
1 paper
NM_006262.4
p.A132delFs
c.394delG
1 paper
NM_006262.4
p.P137L
c.410C>T
1 paper
NM_006262.4
p.R139S
c.415C>A
1 paper
NM_006262.4
p.R139H
c.416G>A
2 papers
NM_006262.4
p.D141insFs
c.421_422ins4
19 papers
NM_006262.4
p.D141Y
c.421G>T
2 papers
NM_006262.4
p.D141G
c.422A>G
1 paper
NM_006262.4
p.D141E
c.423C>G
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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."