Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.K369K

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
3 papers
NM_006262.4
p.K369K
c.1107A>G
Surrounding Variants
1 paper
NM_006262.4
p.E370del1
c.1108_1110delGAG
1 paper
NM_006262.4
p.K369I
c.1106A>T
1 paper
NM_006262.4
p.L368L
c.1104A>G
1 paper
NM_006262.4
p.K369delFs
c.1107delA
1 paper
NM_006262.4
p.L365V
c.1093C>G
3 papers
NM_006262.4
p.L361L
c.1083C>G
1 paper
NM_006262.4
p.Y379S
c.1136A>C
1 paper
NM_006262.4
p.L383del1
c.1147_1149delCTC
1 paper
NM_006262.4
p.L383I
c.1147C>A
1 paper
NM_006262.4
p.L383V
c.1147C>G
1 paper
NM_006262.4
p.N384S
c.1151A>G
1 paper
NM_006262.4
p.G353D
c.1058G>A
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