Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.M1T

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
2 papers
NM_006262.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_006262.4
p.M1K
c.2T>A
1 paper
NM_006262.4
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
1 paper
NM_006262.4
p.S2insFs
c.4dupA
2 papers
NM_006262.4
p.S2C
c.4A>T
1 paper
NM_006262.4
p.S2N
c.5G>A
1 paper
NM_006262.4
p.S2I
c.5G>T
1 paper
NM_006262.4
p.H3R
c.8A>G
1 paper
NM_006262.4
p.S6P
c.16T>C
1 paper
NM_006262.4
p.L8F
c.22C>T
9 papers
NM_006262.4
p.R9Q
c.26G>A
1 paper
NM_006262.4
p.R9R
c.27G>A
1 paper
NM_006262.4
p.A10T
c.28G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."