Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C119G

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.C119G
c.355T>G
Surrounding Variants
2 papers
NM_000322.5
p.C119fs
c.355_356fs
1 paper
NM_000322.5
p.C119Y
c.356G>A
1 paper
NM_000322.5
p.C118delFs
c.352_353delCA
1 paper
NM_000322.5
p.C118G
c.352T>G
1 paper
NM_000322.5
p.C118fs
c.352_353fs
4 papers
NM_000322.5
p.C119_F120del1
c.356_358delAGC
1 paper
NM_000322.5
p.F120L
c.360T>A
1 paper
NM_000322.5
p.C119_F120del2
c.355_359del6
4 papers
NM_000322.5
p.A116S
c.346G>T
1 paper
NM_000322.5
p.L122F
c.364C>T
1 paper
NM_000322.5
p.C119_L122delFs
c.356_365del10
8 papers
NM_000322.5
p.R123W
c.367C>T
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."