Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.I440M

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.I440M
c.1320C>G
Surrounding Variants
1 paper
NM_006262.4
p.T445I
c.1334C>T
2 papers
NM_006262.4
p.R435W
c.1303C>T
1 paper
NM_006262.4
p.H433P
c.1298A>C
1 paper
NM_006262.4
p.E449delFs
c.1346_1347delAG
1 paper
NM_006262.4
p.E449fs
c.1345_1346fs
1 paper
NM_006262.4
p.P424H
c.1271C>A
1 paper
NM_006262.4
p.V423Splc
c.1267+58T>C
1 paper
NM_006262.4
p.V423Splc
c.1267+1G>A
1 paper
NM_006262.4
p.S416F
c.1247C>T
2 papers
NM_006262.4
p.R459H
c.1376G>A
1 paper
NM_006262.4
p.V411I
c.1231G>A
1 paper
NM_006262.4
p.V409M
c.1225G>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."