Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.L150P

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
10 papers
NM_174878.3
p.L150P
c.449T>C
NM_001195794.1
p.L163P
c.488T>C
Surrounding Variants
1 paper
NM_174878.3
p.M152V
c.454A>G
1 paper
NM_052995.2
p.M76insFs
c.227dupT
3 papers
NM_174878.3
p.G148_C149ins4
c.442_446ins12
1 paper
NM_174878.3
p.G148S
c.442G>A
1 paper
NM_174878.3
p.C147F
c.440G>T
1 paper
NM_052995.2
p.I77insFs
c.230dupT
9 papers
NM_174878.3
p.L154W
c.461T>G
NM_001195794.1
p.L167W
c.500T>G
1 paper
NM_174878.3
p.S146Y
c.437C>A
4 papers
NM_174878.3
p.I153_L154del1
c.459_461delAAT
1 paper
NM_174878.3
p.F155L
c.463T>C
1 paper
NM_001195794.1
p.F168Y
c.503T>A
1 paper
NM_174878.3
p.F155L
c.465T>G
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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."