Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.P216H

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.P216H
c.647C>A
Surrounding Variants
49 papers
NM_000322.5
p.P216L
c.647C>T
2 papers
NM_000322.5
p.P216R
c.647C>G
2 papers
NM_000322.5
p.P216fs
c.646_647fs
28 papers
NM_000322.5
p.P216S
c.646C>T
2 papers
NM_000322.5
p.P216A
c.646C>G
3 papers
NM_000322.5
p.S217fs
c.649_650fs
2 papers
NM_000322.5
p.S217G
c.649A>G
2 papers
NM_000322.5
p.S217insFs
c.649_650ins17
3 papers
NM_000322.5
p.P216_S217Fs
c.646_649delinsGGFs
1 paper
NM_000322.5
p.S217insFs
c.650dupG
3 papers
NM_000322.5
p.N215Y
c.643A>T
2 papers
NM_000322.5
p.N215H
c.643A>C
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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."