Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.T240_E241del2

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.T240_E241del2
c.718_722del6
Surrounding Variants
1 paper
NM_000322.5
p.A232_E241delFs
c.694_722del29
3 papers
NM_000322.5
p.D237_E241del0
c.711_722del12
2 papers
NM_000322.5
p.E242G
c.725A>G
1 paper
NM_000322.5
p.E241Q
c.721G>C
3 papers
NM_000322.5
p.N244fs
c.730_731fs
33 papers
NM_000322.5
p.N244H
c.730A>C
27 papers
NM_000322.5
p.N244K
c.732C>G
27 papers
NM_000322.5
p.N244K
c.732C>A
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.D237_H238delins
c.709_714delinsACA
4 papers
NM_000322.5
p.L245insFs
c.734dupT
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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."