Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.Q145H

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.Q145H
c.435G>T
Surrounding Variants
1 paper
NM_006262.4
p.C144*
c.432C>A
1 paper
NM_006262.4
p.D141E
c.423C>G
2 papers
NM_006262.4
p.D141G
c.422A>G
1 paper
NM_006262.4
p.E150K
c.448G>A
2 papers
NM_006262.4
p.D141insFs
c.421_422ins4
19 papers
NM_006262.4
p.D141Y
c.421G>T
1 paper
NM_006262.4
p.L151L
c.451C>T
1 paper
NM_006262.4
p.L151R
c.452T>G
1 paper
NM_006262.4
p.R139H
c.416G>A
1 paper
NM_006262.4
p.R139S
c.415C>A
1 paper
NM_006262.4
p.P137L
c.410C>T
1 paper
NM_006262.4
p.E136G
c.407A>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."