Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.I156insFs

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.I156insFs
c.466_467dupAT
Surrounding Variants
1 paper
NM_000322.5
p.I156I
c.468C>T
1 paper
NM_000322.5
p.D157Y
c.469G>T
11 papers
NM_000322.5
p.D157N
c.469G>A
2 papers
NM_000322.5
p.D157G
c.470A>G
3 papers
NM_000322.5
p.T155I
c.464C>T
2 papers
NM_000322.5
p.K154_T155Fs
c.461_464delinsTGGTCTFs
18 papers
NM_000322.5
p.K153del1
c.457_458delCTT
1 paper
NM_000322.5
p.K154N
c.462G>T
1 paper
NM_000322.5
p.K154N
c.462G>C
1 paper
NM_000322.5
p.L159_Q160insTAA
c.475_479ins9
1 paper
NM_000322.5
p.K154M
c.461A>T
1 paper
NM_000322.5
p.L159R
c.476T>G
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