Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.S245C

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.S245C
c.733A>T
Surrounding Variants
1 paper
NM_006262.4
p.V243M
c.727G>A
1 paper
NM_006262.4
p.E244_V248del5
c.730_743del15
1 paper
NM_006262.4
p.V241A
c.722T>C
2 papers
NM_006262.4
p.L239L
c.715C>T
1 paper
NM_006262.4
p.Q240_V241del2
c.718_722del6
1 paper
NM_006262.4
p.D238N
c.712G>A
2 papers
NM_006262.4
p.R237*
c.709C>T
1 paper
NM_006262.4
p.V253_E254delFs
c.759_760delGG
1 paper
NM_006262.4
p.T256K
c.767C>A
1 paper
NM_006262.4
p.T256T
c.768G>T
1 paper
NM_006262.4
p.V257insFs
c.769_770insA
2 papers
NM_006262.4
p.K258M
c.773A>T
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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."