Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L185P

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
53 papers
NM_000322.5
p.L185P
c.554T>C
Surrounding Variants
6 papers
NM_000322.5
p.D186N
c.556G>A
2 papers
NM_000322.5
p.Y184*
c.552C>G
2 papers
NM_000322.5
p.Y184*
c.552C>A
1 paper
NM_000322.5
p.Y184C
c.551A>G
21 papers
NM_000322.5
p.Y184S
c.551A>C
3 papers
NM_000322.5
p.D186D
c.558C>T
1 paper
NM_000322.5
p.R183H
c.548G>A
1 paper
NM_000322.5
p.F187L
c.561T>A
1 paper
NM_000322.5
p.N182insFs
c.545dupA
1 paper
NM_000322.5
p.S188fs
c.562_563fs
1 paper
NM_000322.5
p.S188delFs
c.562delA
1 paper
NM_000322.5
p.N182fs
c.544_545fs
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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."