Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.G59delFs

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.G59delFs
c.176delC
Surrounding Variants
1 paper
NM_174878.3
p.G59fs
c.175_176fs
1 paper
NM_174878.3
p.M61fs
c.181_182fs
3 papers
NM_174878.3
p.M61delFs
c.181delT
1 paper
NM_174878.3
p.M61fs
c.181_182fs
1 paper
NM_174878.3
p.Q62fs
c.184_185fs
1 paper
NM_174878.3
p.Y63fs
c.187_188fs
4 papers
NM_174878.3
p.Y63S
c.188A>C
7 papers
NM_174878.3
p.D55delFs
c.165delG
15 papers
NM_174878.3
p.Y63*
c.189C>G
3 papers
NM_174878.3
p.D55fs
c.163_164fs
2 papers
NM_174878.3
p.Y63fs
c.187_188fs
16 papers
NM_174878.3
p.Y63*
c.189C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."