Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.W179*

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
7 papers
NM_000322.5
p.W179*
c.536G>A
Surrounding Variants
3 papers
NM_000322.5
p.W179L
c.536G>T
4 papers
NM_000322.5
p.W179G
c.535T>G
11 papers
NM_000322.5
p.W179R
c.535T>C
11 papers
NM_000322.5
p.W179R
c.535T>A
3 papers
NM_000322.5
p.W179C
c.537G>T
3 papers
NM_000322.5
p.W179C
c.537G>C
7 papers
NM_000322.5
p.W179*
c.537G>A
1 paper
NM_000322.5
p.Q178H
c.534G>T
1 paper
NM_000322.5
p.Q178H
c.534G>C
8 papers
NM_000322.5
p.Q178R
c.533A>G
1 paper
NM_000322.5
p.I180M
c.540C>G
3 papers
NM_000322.5
p.S181C
c.541A>T
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."