Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.M120K

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
15 papers
NM_174878.3
p.M120K
c.359T>A
Surrounding Variants
2 papers
NM_174878.3
p.Y121C
c.362A>G
1 paper
NM_174878.3
p.A123V
c.368C>T
7 papers
NM_174878.3
p.A123D
c.368C>A
1 paper
NM_052995.2
p.F48L
c.144T>G
1 paper
NM_052995.2
p.F48F
c.144T>C
3 papers
NM_174878.3
p.G125R
c.373G>A
1 paper
NM_174878.3
p.G125insFs
c.374_375insT
1 paper
NM_174878.3
p.V114delFs
c.341delA
1 paper
NM_174878.3
p.V114G
c.341T>G
1 paper
NM_174878.3
p.V114fs
c.340_341fs
1 paper
NM_174878.3
p.P127R
c.380C>G
1 paper
NM_174878.3
p.T112I
c.335C>T
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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."