Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.P216_S218del3

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.P216_S218del3
c.646_653del9
Surrounding Variants
1 paper
NM_000322.5
p.F211_P219del0
c.633_656del24
2 papers
NM_000322.5
p.R220fs
c.658_659fs
17 papers
NM_000322.5
p.R220W
c.658C>T
9 papers
NM_000322.5
p.P219R
c.656C>G
1 paper
NM_000322.5
p.R220G
c.658C>G
1 paper
NM_000322.5
p.R220insFs
c.658_659ins4
1 paper
NM_000322.5
p.S218_P219insFs
c.654_655ins32
1 paper
NM_000322.5
p.P219Q
c.656C>A
1 paper
NM_000322.5
p.S218_P219delFs
c.654_655delGC
4 papers
NM_000322.5
p.R220P
c.659G>C
18 papers
NM_000322.5
p.R220Q
c.659G>A
3 papers
NM_000322.5
p.R220delFs
c.658delG
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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."