Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L130P

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
6 papers
NM_000322.5
p.L130P
c.389T>C
Surrounding Variants
3 papers
NM_000322.5
p.N128_T129insFs
c.382_385dup4
1 paper
NM_000322.5
p.N128_G131delFs
c.383_392del10
3 papers
NM_000322.5
p.T129fs
c.385_386fs
1 paper
NM_000322.5
p.Q132*
c.394C>T
1 paper
NM_000322.5
p.Q132E
c.394C>G
1 paper
NM_000322.5
p.N128insFs
c.382dupA
5 papers
NM_000322.5
p.Q132fs
c.394_395fs
9 papers
NM_000322.5
p.Q132delFs
c.394delG
1 paper
NM_000322.5
p.N128fs
c.382_383fs
2 papers
NM_000322.5
p.Q132fs
c.394_395fs
1 paper
NM_000322.5
p.E127delFs
c.381delC
1 paper
NM_000322.5
p.L126_E127del0
c.376_381del6
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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."