Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.L28insFs

CLRN1

261 papers

RefSeq Summary

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded p...

Pfam Domains

Clarin-2aa 5–206UCSCClarin-2-like

Gene Aliases

HGNC Name

clarin 1

HGNC Previous Symbols

USH3; USH3A; RP61

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174878.3
p.L28insFs
c.84dupG
Surrounding Variants
1 paper
NM_174878.3
p.G29E
c.86G>A
1 paper
NM_174878.3
p.T30T
c.90A>G
1 paper
NM_174878.3
p.P31S
c.91C>T
1 paper
NM_174878.3
p.P31T
c.91C>A
7 papers
NM_174878.3
p.P31L
c.92C>T
1 paper
NM_174878.3
p.L28W
c.83T>G
1 paper
NM_174878.3
p.A27T
c.79G>A
2 papers
NM_174878.3
p.W33*
c.98G>A
1 paper
NM_174878.3
p.W33_I34insFs
c.99_100insT
1 paper
NM_174878.3
p.W33*
c.99G>A
1 paper
NM_174878.3
p.G23*
c.67G>T
1 paper
NM_174878.3
p.L22H
c.65T>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."