Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.Y63_G70delFs

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.Y63_G70delFs
c.187_209del23
Surrounding Variants
1 paper
NM_174878.3
p.R72G
c.214A>G
1 paper
NM_174878.3
p.R72R
c.216G>A
2 papers
NM_174878.3
p.Q73R
c.218A>G
1 paper
NM_174878.3
p.G68insFs
c.203_204insC
1 paper
NM_174878.3
p.C74R
c.220T>C
1 paper
NM_174878.3
p.G68R
c.202G>C
1 paper
NM_174878.3
p.G68R
c.202G>A
1 paper
NM_174878.3
p.C74*
c.222T>A
1 paper
NM_174878.3
p.G75E
c.224G>A
1 paper
NM_174878.3
p.G75delFs
c.223delC
1 paper
NM_174878.3
p.L76fs
c.226_227fs
1 paper
NM_174878.3
p.L65delFs
c.193delG
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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."