Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.I65fs

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.I65fs
c.193_194fs
Surrounding Variants
2 papers
NM_000322.5
p.L64insFs
c.192dupG
1 paper
NM_000322.5
p.S63delFs
c.189delT
1 paper
NM_000322.5
p.I65delFs
c.195delT
1 paper
NM_000322.5
p.M67insFs
c.200_201ins4
7 papers
NM_000322.5
p.G68R
c.202G>C
7 papers
NM_000322.5
p.G68R
c.202G>A
7 papers
NM_000322.5
p.M67del1
c.199_200delCAT
1 paper
NM_000322.5
p.G66_G68Fs
c.198_202delinsAAGAFs
2 papers
NM_000322.5
p.G66_G68delins
c.198_202delinsAAGACACA
1 paper
NM_000322.5
p.G68insFs
c.203_204insC
1 paper
NM_000322.5
p.G68E
c.203G>A
2 papers
NM_000322.5
p.V69L
c.205G>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."