Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L159R

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.L159R
c.476T>G
Surrounding Variants
1 paper
NM_000322.5
p.L159_Q160insTAA
c.475_479ins9
4 papers
NM_000322.5
p.Q160*
c.478C>T
1 paper
NM_000322.5
p.I156_I161Fs
c.468_481delinsGFs
2 papers
NM_000322.5
p.D157G
c.470A>G
1 paper
NM_000322.5
p.D157Y
c.469G>T
11 papers
NM_000322.5
p.D157N
c.469G>A
3 papers
NM_000322.5
p.I161M
c.483C>G
1 paper
NM_000322.5
p.E162*
c.484G>T
1 paper
NM_000322.5
p.I156I
c.468C>T
1 paper
NM_000322.5
p.I156insFs
c.466_467dupAT
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."