Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.G210delFs

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.G210delFs
c.630delT
Surrounding Variants
1 paper
NM_174878.3
p.G210_F211insFs
c.630_631insT
1 paper
NM_174878.3
p.Q212*
c.634C>T
1 paper
NM_174878.3
p.Q212R
c.635A>G
1 paper
NM_174878.3
p.Q212insFs
c.635_636insGC
1 paper
NM_174878.3
p.R207Q
c.620G>A
1 paper
NM_174878.3
p.L205_R207delFs
c.613_619del7
9 papers
NM_174878.3
p.R207*
c.619C>T
NM_001195794.1
p.R220*
c.658C>T
1 paper
NM_174878.3
p.I206T
c.617T>C
1 paper
NM_174878.3
p.G203R
c.607G>C
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.K219insFs
c.656_657insA
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