Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.F74L

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
3 papers
NM_000322.5
p.F74L
c.222C>G
Surrounding Variants
1 paper
NM_000322.5
p.F74S
c.221T>C
5 papers
NM_000322.5
p.V73_F74del2
c.217_221del6
1 paper
NM_000322.5
p.F74L
c.220T>C
1 paper
NM_000322.5
p.C72_V73del1
c.216_218delACA
1 paper
NM_000322.5
p.C72S
c.215G>C
1 paper
NM_000322.5
p.C72R
c.214T>C
1 paper
NM_000322.5
p.C72S
c.214T>A
1 paper
NM_000322.5
p.A78fs
c.232_233fs
1 paper
NM_000322.5
p.A78Fs
c.232delinsCTFs
1 paper
NM_000322.5
p.A78insFs
c.232_233insT
2 papers
NM_000322.5
p.F74_L77del4
c.220_230del12
1 paper
NM_000322.5
p.S71insFs
c.212_213insAT
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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."