Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C165R

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
6 papers
NM_000322.5
p.C165R
c.493T>C
Surrounding Variants
1 paper
NM_000322.5
p.C165G
c.493T>G
1 paper
NM_000322.5
p.C165S
c.493T>A
1 paper
NM_000322.5
p.C165F
c.494G>T
1 paper
NM_000322.5
p.C165S
c.494G>C
13 papers
NM_000322.5
p.C165Y
c.494G>A
1 paper
NM_000322.5
p.Q160_F163del4
c.478_488del12
7 papers
NM_000322.5
p.C166Y
c.497G>A
1 paper
NM_000322.5
p.F163F
c.489C>T
2 papers
NM_000322.5
p.G167C
c.499G>T
1 paper
NM_000322.5
p.G167R
c.499G>C
25 papers
NM_000322.5
p.G167S
c.499G>A
11 papers
NM_000322.5
p.G167D
c.500G>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."