Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S218L

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.S218L
c.653C>T
Surrounding Variants
2 papers
NM_000322.5
p.S218W
c.653C>G
3 papers
NM_000322.5
p.S218*
c.653C>A
6 papers
NM_000322.5
p.S218P
c.652T>C
1 paper
NM_000322.5
p.S218S
c.654G>A
1 paper
NM_000322.5
p.S217insFs
c.650dupG
1 paper
NM_000322.5
p.G208_S218insFs
c.623_654dup32
1 paper
NM_000322.5
p.S218delFs
c.654delC
2 papers
NM_000322.5
p.P219fs
c.655_656fs
9 papers
NM_000322.5
p.P219R
c.656C>G
1 paper
NM_000322.5
p.S218_P219insFs
c.654_655ins32
1 paper
NM_000322.5
p.P219Q
c.656C>A
1 paper
NM_000322.5
p.S218_P219delFs
c.654_655delGC
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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."