Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2

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
1–12 of 784 variants
115 papers
NM_000322.5
p.R172W
c.514C>T
53 papers
NM_000322.5
p.L185P
c.554T>C
49 papers
NM_000322.5
p.P216L
c.647C>T
47 papers
NM_000322.5
p.Y141C
c.422A>G
46 papers
NM_000322.5
p.R142W
c.424C>T
44 papers
NM_000322.5
p.C214S
c.640T>A
44 papers
NM_000322.5
p.C214S
c.641G>C
41 papers
NM_000322.5
p.G208D
c.623G>A
39 papers
NM_000322.5
p.R46*
c.136C>T
39 papers
NM_000322.5
p.R172Q
c.515G>A
33 papers
NM_000322.5
p.N244H
c.730A>C
32 papers
NM_000322.5
p.C150S
c.448T>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."