Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.R46*

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
39 papers
NM_000322.5
p.R46*
c.136C>T
Surrounding Variants
2 papers
NM_000322.5
p.R46Q
c.137G>A
1 paper
NM_000322.5
p.L45fs
c.133_134fs
1 paper
NM_000322.5
p.L45delFs
c.133delG
12 papers
NM_000322.5
p.L45F
c.133C>T
1 paper
NM_000322.5
p.I43Fs
c.128delinsGGFs
2 papers
NM_000322.5
p.S49G
c.145A>G
1 paper
NM_000322.5
p.S49R
c.145A>C
1 paper
NM_000322.5
p.S49R
c.147C>G
1 paper
NM_000322.5
p.S49R
c.147C>A
6 papers
NM_000322.5
p.D50H
c.148G>C
2 papers
NM_000322.5
p.K42E
c.124A>G
1 paper
NM_000322.5
p.L41delFs
c.122delA
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