Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.A277T

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
7 papers
NM_006262.4
p.A277T
c.829G>A
Surrounding Variants
3 papers
NM_006262.4
p.A276T
c.826G>A
1 paper
NM_006262.4
p.K278M
c.833A>T
1 paper
NM_006262.4
p.N279K
c.837C>A
1 paper
NM_006262.4
p.N279K
c.837C>G
1 paper
NM_006262.4
p.E282_K288delFs
c.846_862del17
1 paper
NM_006262.4
p.R266K
c.797G>A
1 paper
NM_006262.4
p.S289F
c.866C>T
1 paper
NM_006262.4
p.S289S
c.867C>A
1 paper
NM_006262.4
p.T262M
c.785C>T
1 paper
NM_006262.4
p.T262_A263insG
c.784_788ins3
1 paper
NM_006262.4
p.K290_Y291Splc
c.870+12G>A
2 papers
NM_006262.4
p.K258M
c.773A>T
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