Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C72R

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.C72R
c.214T>C
Surrounding Variants
1 paper
NM_000322.5
p.C72S
c.214T>A
1 paper
NM_000322.5
p.C72S
c.215G>C
1 paper
NM_000322.5
p.S71insFs
c.212_213insAT
2 papers
NM_000322.5
p.S71fs
c.211_212fs
2 papers
NM_000322.5
p.L70insFs
c.209dupT
1 paper
NM_000322.5
p.V69_L70del1
c.207_209delAGC
1 paper
NM_000322.5
p.C72_V73del1
c.216_218delACA
1 paper
NM_000322.5
p.F74L
c.220T>C
1 paper
NM_000322.5
p.F74S
c.221T>C
4 papers
NM_000322.5
p.V69delFs
c.205delC
3 papers
NM_000322.5
p.F74L
c.222C>G
2 papers
NM_000322.5
p.V69L
c.205G>T
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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."