Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D207E

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
2 papers
NM_000322.5
p.D207E
c.621C>G
Surrounding Variants
2 papers
NM_000322.5
p.D207E
c.621C>A
2 papers
NM_000322.5
p.D201_D207del0
c.603_620del18
1 paper
NM_000322.5
p.D207insFs
c.621dupC
2 papers
NM_000322.5
p.G208fs
c.622_623fs
3 papers
NM_000322.5
p.D207G
c.620A>G
41 papers
NM_000322.5
p.G208D
c.623G>A
3 papers
NM_000322.5
p.G208insFs
c.623_624insG
1 paper
NM_000322.5
p.G202_G208ins2
c.606_623dup18
1 paper
NM_000322.5
p.G208delFs
c.623delC
3 papers
NM_000322.5
p.Y204_G208delFs
c.610_623del14
4 papers
NM_000322.5
p.V209F
c.625G>T
11 papers
NM_000322.5
p.V209I
c.625G>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."