Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.R172fs

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.R172fs
c.514_515fs
Surrounding Variants
115 papers
NM_000322.5
p.R172W
c.514C>T
8 papers
NM_000322.5
p.R172G
c.514C>G
3 papers
NM_000322.5
p.F171insFs
c.513dupT
2 papers
NM_000322.5
p.F171delFs
c.511delA
1 paper
NM_000322.5
p.R172L
c.515G>T
4 papers
NM_000322.5
p.R172P
c.515G>C
39 papers
NM_000322.5
p.R172Q
c.515G>A
2 papers
NM_000322.5
p.F171C
c.512T>G
1 paper
NM_000322.5
p.R172R
c.516G>T
2 papers
NM_000322.5
p.D173N
c.517G>A
9 papers
NM_000322.5
p.D173V
c.518A>T
2 papers
NM_000322.5
p.D173A
c.518A>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."