Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.Y63*

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
16 papers
NM_174878.3
p.Y63*
c.189C>A
Surrounding Variants
15 papers
NM_174878.3
p.Y63*
c.189C>G
2 papers
NM_174878.3
p.Y63fs
c.187_188fs
1 paper
NM_174878.3
p.G64W
c.190G>T
5 papers
NM_174878.3
p.G64R
c.190G>C
5 papers
NM_174878.3
p.G64R
c.190G>A
4 papers
NM_174878.3
p.Y63S
c.188A>C
2 papers
NM_174878.3
p.G64A
c.191G>C
1 paper
NM_174878.3
p.Y63fs
c.187_188fs
1 paper
NM_174878.3
p.G59_G64delFs
c.176_191del16
1 paper
NM_174878.3
p.L65delFs
c.193delG
1 paper
NM_174878.3
p.Q62fs
c.184_185fs
1 paper
NM_174878.3
p.M61fs
c.181_182fs
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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."