Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.I104I

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.I104I
c.312C>T
Surrounding Variants
1 paper
NM_000322.5
p.C105delFs
c.313delA
3 papers
NM_000322.5
p.I104_C105delFs
c.310_313del4
3 papers
NM_000322.5
p.I104fs
c.310_311fs
1 paper
NM_000322.5
p.I104V
c.310A>G
1 paper
NM_000322.5
p.A103insFs
c.309dupT
1 paper
NM_000322.5
p.P100_L102del3
c.298_305del9
6 papers
NM_000322.5
p.V106V
c.318T>C
2 papers
NM_000322.5
p.V106delFs
c.318delA
1 paper
NM_000322.5
p.Y101_V106del6
c.301_317del18
2 papers
NM_000322.5
p.L107fs
c.319_320fs
1 paper
NM_000322.5
p.Y101Y
c.303C>T
2 papers
NM_000322.5
p.Y101*
c.303C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."