Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C214W

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
2 papers
NM_000322.5
p.C214W
c.642C>G
Surrounding Variants
4 papers
NM_000322.5
p.C214*
c.642C>A
44 papers
NM_000322.5
p.C214S
c.641G>C
11 papers
NM_000322.5
p.C214Y
c.641G>A
3 papers
NM_000322.5
p.N215Y
c.643A>T
2 papers
NM_000322.5
p.N215H
c.643A>C
44 papers
NM_000322.5
p.C214S
c.640T>A
4 papers
NM_000322.5
p.C213W
c.639C>G
2 papers
NM_000322.5
p.P216fs
c.646_647fs
3 papers
NM_000322.5
p.C213F
c.638G>T
4 papers
NM_000322.5
p.C213S
c.638G>C
24 papers
NM_000322.5
p.C213Y
c.638G>A
28 papers
NM_000322.5
p.P216S
c.646C>T
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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."