Varaico: Literature-Extracted Genetic Variants

Gene:CLRN2
Variant:p.Y62H

CLRN2

29 papers

RefSeq Summary

This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of thi...

Pfam Domains

Clarin-2aa 5–206UCSCClarin-2-like

Gene Aliases

HGNC Name

clarin 2

HGNC Alias Symbol

DFNB117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079827.2
p.Y62H
c.184T>C
Surrounding Variants
1 paper
NM_001079827.2
p.Y63*
c.189C>A
1 paper
NM_001079827.2
p.Y63*
c.189C>G
3 papers
NM_001079827.2
p.N48K
c.144C>A
3 papers
NM_001079827.2
p.N48K
c.144C>G
1 paper
NM_001079827.2
p.L76I
c.226C>A
1 paper
NM_001079827.2
p.Q80insFs
c.239_240insC
1 paper
NM_001079827.2
p.Q82R
c.245A>G
1 paper
NM_001079827.2
p.V26F
c.76G>T
4 papers
NM_001079827.2
p.W4*
c.12G>A
4 papers
NM_001079827.2
p.W4*
c.11G>A
1 paper
NM_001079827.2
p.I85Splc
c.254-87C>T
1 paper
NM_001079827.2
p.E92E
c.276G>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."