Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S212G

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
18 papers
NM_000322.5
p.S212G
c.634A>G
Surrounding Variants
2 papers
NM_000322.5
p.S212R
c.634A>C
1 paper
NM_000322.5
p.S212_C213insAT
c.634_638ins6
11 papers
NM_000322.5
p.S212T
c.635G>C
1 paper
NM_000322.5
p.S212N
c.635G>A
16 papers
NM_000322.5
p.F211L
c.633C>G
16 papers
NM_000322.5
p.F211L
c.633C>A
2 papers
NM_000322.5
p.S212R
c.636C>G
2 papers
NM_000322.5
p.S212R
c.636C>A
1 paper
NM_000322.5
p.C213G
c.637T>G
16 papers
NM_000322.5
p.F211L
c.631T>C
10 papers
NM_000322.5
p.C213R
c.637T>C
4 papers
NM_000322.5
p.C213S
c.637T>A
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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."