Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L114P

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.L114P
c.341T>C
Surrounding Variants
1 paper
NM_000322.5
p.L114fs
c.340_341fs
2 papers
NM_000322.5
p.L114fs
c.340_341fs
1 paper
NM_000322.5
p.L114F
c.340C>T
1 paper
NM_000322.5
p.L114V
c.340C>G
1 paper
NM_000322.5
p.F113insFs
c.338_339ins14
1 paper
NM_000322.5
p.I111_L112del1
c.333_335delAGG
4 papers
NM_000322.5
p.A116S
c.346G>T
1 paper
NM_000322.5
p.V106_I111del6
c.316_332del18
1 paper
NM_000322.5
p.V106_I111del0
c.318_332del15
1 paper
NM_000322.5
p.C118G
c.352T>G
1 paper
NM_000322.5
p.C118fs
c.352_353fs
1 paper
NM_000322.5
p.C118delFs
c.352_353delCA
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