Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.N169del1

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
5 papers
NM_000322.5
p.N169del1
c.505_506delGTT
Surrounding Variants
5 papers
NM_000322.5
p.G170S
c.508G>A
1 paper
NM_000322.5
p.G167_N168ins0
c.499_504dup6
2 papers
NM_000322.5
p.F171C
c.512T>G
2 papers
NM_000322.5
p.R172fs
c.514_515fs
115 papers
NM_000322.5
p.R172W
c.514C>T
8 papers
NM_000322.5
p.R172G
c.514C>G
3 papers
NM_000322.5
p.F171insFs
c.513dupT
2 papers
NM_000322.5
p.F171delFs
c.511delA
1 paper
NM_000322.5
p.N168H
c.502A>C
1 paper
NM_000322.5
p.R172L
c.515G>T
4 papers
NM_000322.5
p.R172P
c.515G>C
39 papers
NM_000322.5
p.R172Q
c.515G>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."