Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.G38fs

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.G38fs
c.112_113fs
Surrounding Variants
1 paper
NM_000322.5
p.G38*
c.112G>T
5 papers
NM_000322.5
p.G38R
c.112G>C
5 papers
NM_000322.5
p.G38R
c.112G>A
1 paper
NM_000322.5
p.G38E
c.113G>A
6 papers
NM_000322.5
p.G38delFs
c.113delC
1 paper
NM_000322.5
p.L39Fs
c.115delinsTTGTTCCTFs
3 papers
NM_000322.5
p.L39P
c.116T>C
1 paper
NM_000322.5
p.I34_S36del0
c.101_106del6
1 paper
NM_000322.5
p.F35L
c.105C>G
1 paper
NM_000322.5
p.F35L
c.105C>A
1 paper
NM_000322.5
p.F35L
c.103T>C
1 paper
NM_000322.5
p.I34del1
c.100_102delGAT
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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."