Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D207_V209delins

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.D207_V209delins
c.620_627delinsTA
Surrounding Variants
1 paper
NM_000322.5
p.V209fs
c.625_626fs
2 papers
NM_000322.5
p.V209delFs
c.626delA
4 papers
NM_000322.5
p.V206_V209del0
c.618_626del9
2 papers
NM_000322.5
p.Y204_V209delFs
c.611_626del16
1 paper
NM_000322.5
p.V209G
c.626T>G
4 papers
NM_000322.5
p.V209D
c.626T>A
1 paper
NM_000322.5
p.D207_V209del0
c.620_625del6
3 papers
NM_000322.5
p.R203_V209delFs
c.609_625del17
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
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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."