Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.F111L

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.F111L
c.333C>A
Surrounding Variants
1 paper
NM_006262.4
p.F111L
c.333C>G
1 paper
NM_006262.4
p.F111L
c.331T>C
1 paper
NM_006262.4
p.I112M
c.336C>G
1 paper
NM_006262.4
p.E113K
c.337G>A
1 paper
NM_006262.4
p.N110D
c.328A>G
1 paper
NM_006262.4
p.A109D
c.326C>A
1 paper
NM_006262.4
p.K114M
c.341A>T
2 papers
NM_006262.4
p.F108L
c.324C>A
1 paper
NM_006262.4
p.F108L
c.324C>G
1 paper
NM_006262.4
p.F108C
c.323T>G
1 paper
NM_006262.4
p.F108L
c.322T>C
1 paper
NM_006262.4
p.D106E
c.318C>A
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