Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.E100G

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
2 papers
NM_006262.4
p.E100G
c.299A>G
Surrounding Variants
1 paper
NM_006262.4
p.L101_D106del6
c.301_317del18
1 paper
NM_006262.4
p.Q99K
c.295C>A
1 paper
NM_006262.4
p.K98E
c.292A>G
1 paper
NM_006262.4
p.N105delFs
c.314delA
1 paper
NM_006262.4
p.N105_D106insFs
c.315_316insT
1 paper
NM_006262.4
p.R94delFs
c.282delC
1 paper
NM_006262.4
p.D106E
c.318C>A
1 paper
NM_006262.4
p.D106E
c.318C>G
2 papers
NM_006262.4
p.D106D
c.318C>T
1 paper
NM_006262.4
p.T93P
c.277A>C
5 papers
NM_006262.4
p.T93S
c.277A>T
1 paper
NM_006262.4
p.F108L
c.322T>C
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."