Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.E162*

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.E162*
c.484G>T
Surrounding Variants
3 papers
NM_000322.5
p.I161M
c.483C>G
1 paper
NM_000322.5
p.I156_I161Fs
c.468_481delinsGFs
1 paper
NM_000322.5
p.F163F
c.489C>T
4 papers
NM_000322.5
p.Q160*
c.478C>T
1 paper
NM_000322.5
p.Q160_F163del4
c.478_488del12
1 paper
NM_000322.5
p.L159R
c.476T>G
1 paper
NM_000322.5
p.C165G
c.493T>G
6 papers
NM_000322.5
p.C165R
c.493T>C
1 paper
NM_000322.5
p.C165S
c.493T>A
1 paper
NM_000322.5
p.L159_Q160insTAA
c.475_479ins9
1 paper
NM_000322.5
p.C165F
c.494G>T
1 paper
NM_000322.5
p.C165S
c.494G>C
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