Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S125P

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.S125P
c.373T>C
Surrounding Variants
4 papers
NM_000322.5
p.S125L
c.374C>T
5 papers
NM_000322.5
p.R123delFs
c.368delC
1 paper
NM_000322.5
p.G124A
c.371G>C
1 paper
NM_000322.5
p.R123del1
c.367_368delCCG
3 papers
NM_000322.5
p.G124fs
c.370_371fs
5 papers
NM_000322.5
p.L126R
c.377T>G
4 papers
NM_000322.5
p.L126P
c.377T>C
8 papers
NM_000322.5
p.R123W
c.367C>T
1 paper
NM_000322.5
p.C119_L122delFs
c.356_365del10
3 papers
NM_000322.5
p.E127G
c.380A>G
2 papers
NM_000322.5
p.G124_E127delins
c.372_381delinsAAGCTGA
1 paper
NM_000322.5
p.L122F
c.364C>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."