Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.K153E

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
5 papers
NM_000322.5
p.K153E
c.457A>G
Surrounding Variants
1 paper
NM_000322.5
p.K153Q
c.457A>C
12 papers
NM_000322.5
p.K153R
c.458A>G
2 papers
NM_000322.5
p.K153T
c.458A>C
2 papers
NM_000322.5
p.K154fs
c.460_461fs
6 papers
NM_000322.5
p.M152V
c.454A>G
3 papers
NM_000322.5
p.K154Q
c.460A>C
1 paper
NM_000322.5
p.K154M
c.461A>T
1 paper
NM_000322.5
p.F151C
c.452T>G
1 paper
NM_000322.5
p.K154N
c.462G>T
1 paper
NM_000322.5
p.K154N
c.462G>C
3 papers
NM_000322.5
p.T155I
c.464C>T
2 papers
NM_000322.5
p.K154_T155Fs
c.461_464delinsTGGTCTFs
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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."