Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.V411I

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.V411I
c.1231G>A
Surrounding Variants
1 paper
NM_006262.4
p.V409M
c.1225G>A
1 paper
NM_006262.4
p.S416F
c.1247C>T
1 paper
NM_006262.4
p.V423Splc
c.1267+1G>A
2 papers
NM_006262.4
p.R406Splc
c.1217+43C>A
1 paper
NM_006262.4
p.R406Splc
c.1217+34G>A
2 papers
NM_006262.4
p.R406Splc
c.1217+27C>A
1 paper
NM_006262.4
p.V423Splc
c.1267+58T>C
2 papers
NM_006262.4
p.R406W
c.1216C>T
2 papers
NM_006262.4
p.E401K
c.1201G>A
1 paper
NM_006262.4
p.R397R
c.1191C>G
1 paper
NM_006262.4
p.L389P
c.1166T>C
1 paper
NM_006262.4
p.A388A
c.1164C>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."