Varaico: Literature-Extracted Genetic Variants

Gene:CLRN2
Variant:p.E183*

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.E183*
c.547G>T
Surrounding Variants
1 paper
NM_001079827.2
p.E182K
c.544G>A
1 paper
NM_001079827.2
p.C192R
c.574T>C
4 papers
NM_001079827.2
p.T165K
c.494C>A
1 paper
NM_001079827.2
p.P212L
c.635C>T
1 paper
NM_001079827.2
p.A153T
c.457G>A
1 paper
NM_001079827.2
p.I220L
c.658A>C
2 papers
NM_001079827.2
p.G146fs
c.436_437fs
1 paper
NM_001079827.2
p.C138*
c.414C>A
6 papers
NM_001079827.2
p.L113V
c.337C>G
1 paper
NM_001079827.2
p.E92E
c.276G>A
1 paper
NM_001079827.2
p.I85Splc
c.254-87C>T
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