Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D87del1

PRPH2

662 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

Tetraspaninaa 16–288UCSCTetraspanin family

Gene Aliases

HGNC Name

peripherin 2

HGNC Previous Symbols

RP7; RDS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000322.5
p.D87del1
c.259_260delGTC
Surrounding Variants
1 paper
NM_000322.5
p.P88L
c.263C>T
1 paper
NM_000322.5
p.D87fs
c.259_260fs
1 paper
NM_000322.5
p.D87Y
c.259G>T
1 paper
NM_000322.5
p.P88insFs
c.264dupA
1 paper
NM_000322.5
p.A89P
c.265G>C
1 paper
NM_000322.5
p.D87N
c.259G>A
2 papers
NM_000322.5
p.A89fs
c.265_266fs
3 papers
NM_000322.5
p.D87fs
c.259_260fs
6 papers
NM_000322.5
p.D87_A89delFs
c.259_266del8
1 paper
NM_000322.5
p.L86L
c.256C>T
4 papers
NM_000322.5
p.A89_K90Fs
c.265_268delinsAGGGCCFs
2 papers
NM_000322.5
p.Y91H
c.271T>C
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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."