Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.G203R

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.G203R
c.607G>C
Surrounding Variants
4 papers
NM_174878.3
p.N202K
c.606T>G
4 papers
NM_174878.3
p.N202K
c.606T>A
1 paper
NM_174878.3
p.F197_H199delFs
c.591_597del7
1 paper
NM_174878.3
p.I206T
c.617T>C
1 paper
NM_001195794.1
p.H212R
c.635A>G
9 papers
NM_174878.3
p.R207*
c.619C>T
NM_001195794.1
p.R220*
c.658C>T
1 paper
NM_174878.3
p.R207Q
c.620G>A
1 paper
NM_174878.3
p.L205_R207delFs
c.613_619del7
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_174878.3
p.F197fs
c.589_590fs
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