Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D173A

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.D173A
c.518A>C
Surrounding Variants
9 papers
NM_000322.5
p.D173V
c.518A>T
2 papers
NM_000322.5
p.D173N
c.517G>A
2 papers
NM_000322.5
p.W174R
c.520T>C
2 papers
NM_000322.5
p.W174R
c.520T>A
1 paper
NM_000322.5
p.R172R
c.516G>T
1 paper
NM_000322.5
p.R172L
c.515G>T
4 papers
NM_000322.5
p.R172P
c.515G>C
2 papers
NM_000322.5
p.W174S
c.521G>C
39 papers
NM_000322.5
p.R172Q
c.515G>A
3 papers
NM_000322.5
p.W174*
c.521G>A
2 papers
NM_000322.5
p.W174C
c.522G>T
2 papers
NM_000322.5
p.W174C
c.522G>C
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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."