Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.Y176*

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
42 papers
NM_174878.3
p.Y176*
c.528T>G
Surrounding Variants
36 papers
NM_174878.3
p.Y176*
c.528T>A
1 paper
NM_052995.2
p.V101fs
c.301_302fs
1 paper
NM_174878.3
p.T175A
c.523A>G
1 paper
NM_052995.2
p.V101_Y102delFs
c.301_305del5
1 paper
NM_174878.3
p.Y171*
c.513T>A
1 paper
NM_174878.3
p.Y171C
c.512A>G
2 papers
NM_174878.3
p.Y171delFs
c.511delA
1 paper
NM_174878.3
p.E166_A169del0
c.498_506del9
1 paper
NM_174878.3
p.I168fs
c.502_503fs
6 papers
NM_174878.3
p.I168insFs
c.502_503insA
5 papers
NM_174878.3
p.I168N
c.503T>A
NM_001195794.1
p.I181N
c.542T>A
1 paper
NM_174878.3
p.E166_K167delFs
c.498_499delTT
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