Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C222R

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
4 papers
NM_000322.5
p.C222R
c.664T>C
Surrounding Variants
3 papers
NM_000322.5
p.C222G
c.664T>G
6 papers
NM_000322.5
p.C222S
c.664T>A
1 paper
NM_000322.5
p.N215_P221del0
c.643_663del21
6 papers
NM_000322.5
p.C222S
c.665G>C
3 papers
NM_000322.5
p.C222Y
c.665G>A
4 papers
NM_000322.5
p.P219_P221del0
c.657_662del6
4 papers
NM_000322.5
p.P221L
c.662C>T
1 paper
NM_000322.5
p.P221H
c.662C>A
5 papers
NM_000322.5
p.R220_C222del0
c.660_665del6
7 papers
NM_000322.5
p.I223N
c.668T>A
1 paper
NM_000322.5
p.R220fs
c.658_659fs
4 papers
NM_000322.5
p.R220P
c.659G>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."