Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.N182insFs

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.N182insFs
c.545dupA
Surrounding Variants
1 paper
NM_000322.5
p.N182fs
c.544_545fs
1 paper
NM_000322.5
p.R183H
c.548G>A
3 papers
NM_000322.5
p.S181C
c.541A>T
1 paper
NM_000322.5
p.Y184C
c.551A>G
21 papers
NM_000322.5
p.Y184S
c.551A>C
2 papers
NM_000322.5
p.Y184*
c.552C>G
1 paper
NM_000322.5
p.I180M
c.540C>G
2 papers
NM_000322.5
p.Y184*
c.552C>A
53 papers
NM_000322.5
p.L185P
c.554T>C
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
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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."