Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.M1_L3delFs

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.M1_L3delFs
c.1_7del7
Surrounding Variants
1 paper
NM_000322.5
p.L3L
c.7C>T
1 paper
NM_000322.5
p.A2delins
c.5delinsC
1 paper
NM_000322.5
p.L3insFs
c.9dupA
1 paper
NM_000322.5
p.A2insFs
c.4dupG
1 paper
NM_000322.5
p.A2E
c.5C>A
2 papers
NM_000322.5
p.A2S
c.4G>T
1 paper
NM_000322.5
p.A2insFs
c.4_5insT
1 paper
NM_000322.5
p.M1_A2insFs
c.3_4insT
3 papers
NM_000322.5
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
1 paper
NM_000322.5
p.M1_A2insFs
c.3_4insA
6 papers
NM_000322.5
p.M1T
c.2T>C
1 paper
NM_000322.5
p.M1K
c.2T>A
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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."