Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C250fs

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.C250fs
c.748_749fs
Surrounding Variants
1 paper
NM_000322.5
p.C250_R251ins4
c.748_752ins12
7 papers
NM_000322.5
p.C250G
c.748T>G
2 papers
NM_000322.5
p.C250R
c.748T>C
2 papers
NM_000322.5
p.C250S
c.748T>A
4 papers
NM_000322.5
p.C250F
c.749G>T
2 papers
NM_000322.5
p.C250S
c.749G>C
4 papers
NM_000322.5
p.C250Y
c.749G>A
2 papers
NM_000322.5
p.G249delFs
c.746delC
1 paper
NM_000322.5
p.G249D
c.746G>A
1 paper
NM_000322.5
p.G249C
c.745G>T
1 paper
NM_000322.5
p.G249R
c.745G>C
5 papers
NM_000322.5
p.G249S
c.745G>A
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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."