Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.F211L

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
16 papers
NM_000322.5
p.F211L
c.631T>C
Surrounding Variants
8 papers
NM_000322.5
p.P210L
c.629C>T
27 papers
NM_000322.5
p.P210R
c.629C>G
16 papers
NM_000322.5
p.F211L
c.633C>G
16 papers
NM_000322.5
p.F211L
c.633C>A
15 papers
NM_000322.5
p.P210S
c.628C>T
1 paper
NM_000322.5
p.P210A
c.628C>G
2 papers
NM_000322.5
p.V209del1
c.625_626delGAC
1 paper
NM_000322.5
p.D207_V209del3
c.619_626del9
3 papers
NM_000322.5
p.V206_V209del0
c.616_627del12
18 papers
NM_000322.5
p.S212G
c.634A>G
2 papers
NM_000322.5
p.S212R
c.634A>C
1 paper
NM_000322.5
p.S212_C213insAT
c.634_638ins6
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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."