Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.C11W

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.C11W
c.33C>G
Surrounding Variants
2 papers
NM_174878.3
p.C11insFs
c.31dupT
2 papers
NM_174878.3
p.C11fs
c.31_32fs
1 paper
NM_174878.3
p.G14*
c.40G>T
1 paper
NM_174878.3
p.G14E
c.41G>A
1 paper
NM_174878.3
p.I8insFs
c.22_23ins4
2 papers
NM_174878.3
p.K7I
c.20A>T
1 paper
NM_174878.3
p.F16S
c.47T>C
2 papers
NM_174878.3
p.S3R
c.9C>G
2 papers
NM_174878.3
p.S3R
c.9C>A
5 papers
NM_174878.3
p.A19A
c.57A>T
1 paper
NM_174878.3
p.C20R
c.58T>C
2 papers
NM_174878.3
p.S3R
c.7A>C
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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."