Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.W97*

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
6 papers
NM_000322.5
p.W97*
c.291G>A
Surrounding Variants
7 papers
NM_000322.5
p.W97*
c.290G>A
1 paper
NM_000322.5
p.P96S
c.286C>T
2 papers
NM_000322.5
p.P100L
c.299C>T
5 papers
NM_000322.5
p.W94*
c.282G>A
5 papers
NM_000322.5
p.W94*
c.281G>A
1 paper
NM_000322.5
p.Y101Y
c.303C>T
2 papers
NM_000322.5
p.Y101*
c.303C>G
2 papers
NM_000322.5
p.Y101*
c.303C>A
1 paper
NM_000322.5
p.R93R
c.277A>C
3 papers
NM_000322.5
p.A92insFs
c.276dupC
3 papers
NM_000322.5
p.R93fs
c.277_278fs
1 paper
NM_000322.5
p.P100_L102del3
c.298_305del9
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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."