Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S27F

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.S27F
c.80C>T
Surrounding Variants
3 papers
NM_000322.5
p.W25_F26delFs
c.74_77del4
1 paper
NM_000322.5
p.W25del1
c.73_74delCCA
3 papers
NM_000322.5
p.W25C
c.75G>T
3 papers
NM_000322.5
p.W25C
c.75G>C
1 paper
NM_000322.5
p.W25*
c.75G>A
5 papers
NM_000322.5
p.W25delFs
c.73_74delCA
1 paper
NM_000322.5
p.W25*
c.74G>A
4 papers
NM_000322.5
p.W25fs
c.73_74fs
1 paper
NM_000322.5
p.N24Y
c.70A>T
2 papers
NM_000322.5
p.M23delFs
c.68delA
1 paper
NM_000322.5
p.G31V
c.92G>T
1 paper
NM_000322.5
p.G31A
c.92G>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."