Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.G31D

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
1 paper
NM_000322.5
p.G31D
c.92G>A
Surrounding Variants
1 paper
NM_000322.5
p.G31V
c.92G>T
1 paper
NM_000322.5
p.G31A
c.92G>C
13 papers
NM_000322.5
p.I32V
c.94A>G
1 paper
NM_000322.5
p.I32T
c.95T>C
3 papers
NM_000322.5
p.I33fs
c.97_98fs
5 papers
NM_000322.5
p.I32_I33insFs
c.96_97insC
1 paper
NM_000322.5
p.F35L
c.103T>C
1 paper
NM_000322.5
p.I34del1
c.100_102delGAT
5 papers
NM_000322.5
p.S27F
c.80C>T
1 paper
NM_000322.5
p.F35L
c.105C>G
1 paper
NM_000322.5
p.F35L
c.105C>A
3 papers
NM_000322.5
p.W25_F26delFs
c.74_77del4
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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."