Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.C40G

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
17 papers
NM_174878.3
p.C40G
c.118T>G
Surrounding Variants
1 paper
NM_174878.3
p.C40R
c.118T>C
1 paper
NM_174878.3
p.K41delFs
c.121delT
1 paper
NM_174878.3
p.T42T
c.126G>A
1 paper
NM_174878.3
p.G43R
c.127G>C
2 papers
NM_174878.3
p.G43R
c.127G>A
1 paper
NM_174878.3
p.L46fs
c.136_137fs
1 paper
NM_174878.3
p.W33_I34insFs
c.99_100insT
1 paper
NM_174878.3
p.W33*
c.99G>A
2 papers
NM_174878.3
p.W33*
c.98G>A
1 paper
NM_174878.3
p.V47fs
c.139_140fs
1 paper
NM_174878.3
p.N48D
c.142A>G
1 paper
NM_174878.3
p.N48I
c.143A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."