Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.H233del1

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.H233del1
c.697_699delGTG
Surrounding Variants
1 paper
NM_000322.5
p.Y234H
c.700T>C
2 papers
NM_000322.5
p.Y234fs
c.700_701fs
1 paper
NM_000322.5
p.Y234C
c.701A>G
5 papers
NM_000322.5
p.Y234insFs
c.700dupT
1 paper
NM_000322.5
p.Y234fs
c.700_701fs
1 paper
NM_000322.5
p.A232_Y234ins1
c.696_701dup6
1 paper
NM_000322.5
p.S235fs
c.703_704fs
1 paper
NM_000322.5
p.S235delFs
c.704delC
5 papers
NM_000322.5
p.A232V
c.695C>T
1 paper
NM_000322.5
p.Y236_D237insG
c.706_710ins3
1 paper
NM_000322.5
p.A232_H233insT
c.694_698ins3
2 papers
NM_000322.5
p.A232P
c.694G>C
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