Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.R126P

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.R126P
c.377G>C
Surrounding Variants
1 paper
NM_006262.4
p.R126S
c.376C>A
2 papers
NM_006262.4
p.L125R
c.374T>G
1 paper
NM_006262.4
p.A124delFs
c.371delC
1 paper
NM_006262.4
p.A124delFs
c.370delG
1 paper
NM_006262.4
p.A132delFs
c.394delG
12 papers
NM_006262.4
p.R133P
c.398G>C
2 papers
NM_006262.4
p.E119Q
c.355G>C
2 papers
NM_006262.4
p.G134S
c.400G>A
1 paper
NM_006262.4
p.G134R
c.400G>C
3 papers
NM_006262.4
p.L118M
c.352C>A
2 papers
NM_006262.4
p.Q135*
c.403C>T
1 paper
NM_006262.4
p.E136G
c.407A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."