Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D237_H238delins

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.D237_H238delins
c.709_714delinsACA
Surrounding Variants
17 papers
NM_000322.5
p.Q239*
c.715C>T
1 paper
NM_000322.5
p.H238delFs
c.712_713delTG
1 paper
NM_000322.5
p.D237H
c.709G>C
1 paper
NM_000322.5
p.Y236delFs
c.708delG
1 paper
NM_000322.5
p.Y236Y
c.708C>T
6 papers
NM_000322.5
p.Y236*
c.708C>G
6 papers
NM_000322.5
p.Y236*
c.708C>A
1 paper
NM_000322.5
p.E241Q
c.721G>C
2 papers
NM_000322.5
p.Y234_Y236insFs
c.702_706dup5
1 paper
NM_000322.5
p.Y236_D237insG
c.706_710ins3
1 paper
NM_000322.5
p.S235delFs
c.704delC
3 papers
NM_000322.5
p.D237_E241del0
c.711_722del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."