Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.S50*

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.S50*
c.149C>A
Surrounding Variants
2 papers
NM_174878.3
p.S50*
c.149C>G
3 papers
NM_174878.3
p.S50insFs
c.148_149ins4
1 paper
NM_174878.3
p.S50P
c.148T>C
10 papers
NM_174878.3
p.S50fs
c.148_149fs
3 papers
NM_174878.3
p.S50fs
c.148_149fs
2 papers
NM_174878.3
p.G51R
c.151G>C
2 papers
NM_174878.3
p.G51R
c.151G>A
8 papers
NM_174878.3
p.S50_G51Fs
c.149_152delinsTGTCCAATFs
1 paper
NM_174878.3
p.A49V
c.146C>T
1 paper
NM_174878.3
p.S50_G51delFs
c.149_152del4
75 papers
NM_174878.3
p.N48K
c.144T>G
2 papers
NM_174878.3
p.N48N
c.144T>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."