Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.M82L

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.M82L
c.244A>T
Surrounding Variants
1 paper
NM_006262.4
p.M82L
c.244A>C
1 paper
NM_006262.4
p.M82_A83delFs
c.244_248del5
1 paper
NM_006262.4
p.F80_S81delFs
c.240_241delCT
1 paper
NM_006262.4
p.D79N
c.235G>A
1 paper
NM_006262.4
p.N87_E89delFs
c.259_266del8
3 papers
NM_006262.4
p.N87S
c.260A>G
1 paper
NM_006262.4
p.Q88insFs
c.262_263insG
1 paper
NM_006262.4
p.E76K
c.226G>A
1 paper
NM_006262.4
p.Q88insFs
c.264dupG
3 papers
NM_006262.4
p.E89K
c.265G>A
1 paper
NM_006262.4
p.E89G
c.266A>G
1 paper
NM_006262.4
p.L91P
c.272T>C
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