Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.G352E

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.G352E
c.1055G>A
Surrounding Variants
1 paper
NM_006262.4
p.G352W
c.1054G>T
1 paper
NM_006262.4
p.G353delFs
c.1058delG
1 paper
NM_006262.4
p.G353D
c.1058G>A
3 papers
NM_006262.4
p.L361L
c.1083C>G
1 paper
NM_006262.4
p.L365V
c.1093C>G
1 paper
NM_006262.4
p.Q339L
c.1016A>T
3 papers
NM_006262.4
p.R338K
c.1013G>A
1 paper
NM_006262.4
p.L336P
c.1007T>C
1 paper
NM_006262.4
p.K369delFs
c.1107delA
1 paper
NM_006262.4
p.L368L
c.1104A>G
1 paper
NM_006262.4
p.K369I
c.1106A>T
3 papers
NM_006262.4
p.K369K
c.1107A>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."