Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.A78insFs

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.A78insFs
c.232_233insT
Surrounding Variants
1 paper
NM_000322.5
p.A78fs
c.232_233fs
1 paper
NM_000322.5
p.A78Fs
c.232delinsCTFs
2 papers
NM_000322.5
p.F74_L77del4
c.220_230del12
1 paper
NM_000322.5
p.A78fs
c.232_233fs
1 paper
NM_000322.5
p.G79insFs
c.236_237insG
1 paper
NM_000322.5
p.K80N
c.240G>C
5 papers
NM_000322.5
p.V73_F74del2
c.217_221del6
1 paper
NM_000322.5
p.K80_I81delFs
c.240_241delTC
3 papers
NM_000322.5
p.F74L
c.222C>G
1 paper
NM_000322.5
p.F74S
c.221T>C
1 paper
NM_000322.5
p.F74L
c.220T>C
1 paper
NM_000322.5
p.C82Y
c.245G>A
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