Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.K42E

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.K42E
c.124A>G
Surrounding Variants
1 paper
NM_000322.5
p.L41delFs
c.122delA
3 papers
NM_000322.5
p.L41P
c.122T>C
1 paper
NM_000322.5
p.L41delFs
c.121delG
1 paper
NM_000322.5
p.F40delFs
c.119_120delGA
1 paper
NM_000322.5
p.I43Fs
c.128delinsGGFs
3 papers
NM_000322.5
p.L39P
c.116T>C
12 papers
NM_000322.5
p.L45F
c.133C>T
1 paper
NM_000322.5
p.L39Fs
c.115delinsTTGTTCCTFs
1 paper
NM_000322.5
p.L45delFs
c.133delG
6 papers
NM_000322.5
p.G38delFs
c.113delC
1 paper
NM_000322.5
p.G38E
c.113G>A
1 paper
NM_000322.5
p.L45fs
c.133_134fs
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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."