Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.G137S

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.G137S
c.409G>A
Surrounding Variants
7 papers
NM_000322.5
p.G137D
c.410G>A
1 paper
NM_000322.5
p.N136N
c.408C>T
2 papers
NM_000322.5
p.M138R
c.413T>G
1 paper
NM_000322.5
p.T129_L134del6
c.385_401del18
3 papers
NM_000322.5
p.K135E
c.403A>G
1 paper
NM_000322.5
p.K139insFs
c.416dupA
1 paper
NM_000322.5
p.M138_K139insFs
c.412_416dup5
2 papers
NM_000322.5
p.K139del1
c.415_416delCTT
2 papers
NM_000322.5
p.L134V
c.400C>G
1 paper
NM_000322.5
p.Y140fs
c.418_419fs
1 paper
NM_000322.5
p.Y140C
c.419A>G
1 paper
NM_000322.5
p.Y140S
c.419A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."