Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.G148fs

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.G148fs
c.442_443fs
Surrounding Variants
11 papers
NM_000322.5
p.P147delFs
c.441delA
2 papers
NM_000322.5
p.P147del1
c.439_440delAGG
6 papers
NM_000322.5
p.G148fs
c.442_443fs
2 papers
NM_000322.5
p.P147insFs
c.440dupC
1 paper
NM_000322.5
p.P147fs
c.439_440fs
2 papers
NM_000322.5
p.P147delFs
c.440delG
32 papers
NM_000322.5
p.C150S
c.448T>A
32 papers
NM_000322.5
p.C150S
c.449G>C
1 paper
NM_000322.5
p.T144_D145del0
c.430_435del6
1 paper
NM_000322.5
p.T146N
c.437C>A
1 paper
NM_000322.5
p.F151C
c.452T>G
1 paper
NM_000322.5
p.D145fs
c.433_434fs
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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."