Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S231A

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.S231A
c.691T>G
Surrounding Variants
3 papers
NM_000322.5
p.S231*
c.692C>G
3 papers
NM_000322.5
p.S231*
c.692C>A
1 paper
NM_000322.5
p.A232_H233insT
c.694_698ins3
2 papers
NM_000322.5
p.A232P
c.694G>C
1 paper
NM_000322.5
p.A232T
c.694G>A
5 papers
NM_000322.5
p.A232V
c.695C>T
7 papers
NM_000322.5
p.N229S
c.686A>G
6 papers
NM_000322.5
p.T228I
c.683C>T
1 paper
NM_000322.5
p.Y234H
c.700T>C
1 paper
NM_000322.5
p.H233del1
c.697_699delGTG
2 papers
NM_000322.5
p.Y234fs
c.700_701fs
2 papers
NM_000322.5
p.Q224_I227del0
c.670_681del12
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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."