Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.Y234_Y236insFs

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.Y234_Y236insFs
c.702_706dup5
Surrounding Variants
1 paper
NM_000322.5
p.Y236_D237insG
c.706_710ins3
1 paper
NM_000322.5
p.Y236Y
c.708C>T
6 papers
NM_000322.5
p.Y236*
c.708C>G
6 papers
NM_000322.5
p.Y236*
c.708C>A
1 paper
NM_000322.5
p.S235delFs
c.704delC
1 paper
NM_000322.5
p.D237H
c.709G>C
1 paper
NM_000322.5
p.Y236delFs
c.708delG
1 paper
NM_000322.5
p.S235fs
c.703_704fs
1 paper
NM_000322.5
p.Y234fs
c.700_701fs
1 paper
NM_000322.5
p.A232_Y234ins1
c.696_701dup6
1 paper
NM_000322.5
p.Y234C
c.701A>G
5 papers
NM_000322.5
p.Y234insFs
c.700dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."