Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.S188*

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
2 papers
NM_174878.3
p.S188*
c.563C>G
Surrounding Variants
2 papers
NM_174878.3
p.S188*
c.563C>A
1 paper
NM_001195794.1
p.F209I
c.625T>A
1 paper
NM_001195794.1
p.F210fs
c.628_629fs
1 paper
NM_174878.3
p.F197fs
c.589_590fs
1 paper
NM_174878.3
p.F197_V198insFs
c.591_592insT
1 paper
NM_174878.3
p.V198I
c.592G>A
1 paper
NM_001195794.1
p.F210delFs
c.630delA
1 paper
NM_052995.2
p.V101_Y102delFs
c.301_305del5
1 paper
NM_001195794.1
p.H212R
c.635A>G
1 paper
NM_052995.2
p.V101fs
c.301_302fs
42 papers
NM_174878.3
p.Y176*
c.528T>G
36 papers
NM_174878.3
p.Y176*
c.528T>A
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