Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.E119Q

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.E119Q
c.355G>C
Surrounding Variants
3 papers
NM_006262.4
p.L118M
c.352C>A
1 paper
NM_006262.4
p.A124delFs
c.370delG
1 paper
NM_006262.4
p.K114M
c.341A>T
1 paper
NM_006262.4
p.A124delFs
c.371delC
1 paper
NM_006262.4
p.E113K
c.337G>A
1 paper
NM_006262.4
p.I112M
c.336C>G
2 papers
NM_006262.4
p.L125R
c.374T>G
1 paper
NM_006262.4
p.R126S
c.376C>A
1 paper
NM_006262.4
p.F111L
c.333C>A
1 paper
NM_006262.4
p.F111L
c.333C>G
1 paper
NM_006262.4
p.R126P
c.377G>C
1 paper
NM_006262.4
p.F111L
c.331T>C
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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."