Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.E334fs

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.E334fs
c.1000_1001fs
Surrounding Variants
1 paper
NM_006262.4
p.L336P
c.1007T>C
3 papers
NM_006262.4
p.R338K
c.1013G>A
1 paper
NM_006262.4
p.Q339L
c.1016A>T
1 paper
NM_006262.4
p.G353delFs
c.1058delG
1 paper
NM_006262.4
p.G352W
c.1054G>T
1 paper
NM_006262.4
p.G352E
c.1055G>A
1 paper
NM_006262.4
p.G353D
c.1058G>A
3 papers
NM_006262.4
p.L361L
c.1083C>G
5 papers
NM_006262.4
p.T332_N333Splc
c.996+1G>A
1 paper
NM_006262.4
p.L365V
c.1093C>G
1 paper
NM_006262.4
p.L329insFs
c.985_986insAC
1 paper
NM_006262.4
p.K369delFs
c.1107delA
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