Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.Y140_Y141insFs

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.Y140_Y141insFs
c.418_421dup4
Surrounding Variants
2 papers
NM_000322.5
p.Y141F
c.422A>T
47 papers
NM_000322.5
p.Y141C
c.422A>G
3 papers
NM_000322.5
p.Y141S
c.422A>C
11 papers
NM_000322.5
p.Y141H
c.421T>C
2 papers
NM_000322.5
p.Y141*
c.423C>G
2 papers
NM_000322.5
p.Y141*
c.423C>A
1 paper
NM_000322.5
p.Y141delFs
c.422delT
3 papers
NM_000322.5
p.Y141fs
c.421_422fs
1 paper
NM_000322.5
p.R142fs
c.424_425fs
46 papers
NM_000322.5
p.R142W
c.424C>T
2 papers
NM_000322.5
p.Y140*
c.420C>G
2 papers
NM_000322.5
p.Y141insFs
c.421_422ins4
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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."