Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.P134P

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.P134P
c.402C>T
Surrounding Variants
1 paper
NM_174878.3
p.P134L
c.401C>T
1 paper
NM_052995.2
p.L59delFs
c.176delA
5 papers
NM_174878.3
p.G136E
c.407G>A
1 paper
NM_052995.2
p.L61delFs
c.181delG
1 paper
NM_052995.2
p.L55delFs
c.165delC
1 paper
NM_174878.3
p.L140insFs
c.419_420insT
1 paper
NM_174878.3
p.L140fs
c.418_419fs
1 paper
NM_174878.3
p.F142L
c.424T>C
1 paper
NM_174878.3
p.P127R
c.380C>G
1 paper
NM_174878.3
p.F142L
c.426C>G
1 paper
NM_174878.3
p.F142L
c.426C>A
1 paper
NM_174878.3
p.G125insFs
c.374_375insT
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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."