Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.M138_K139insFs

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.M138_K139insFs
c.412_416dup5
Surrounding Variants
1 paper
NM_000322.5
p.K139insFs
c.416dupA
2 papers
NM_000322.5
p.K139del1
c.415_416delCTT
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
2 papers
NM_000322.5
p.Y140*
c.420C>G
1 paper
NM_000322.5
p.Y140fs
c.418_419fs
1 paper
NM_000322.5
p.Y140*
c.420C>A
2 papers
NM_000322.5
p.M138R
c.413T>G
11 papers
NM_000322.5
p.Y141H
c.421T>C
3 papers
NM_000322.5
p.Y141fs
c.421_422fs
2 papers
NM_000322.5
p.Y141F
c.422A>T
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."