Varaico: Literature-Extracted Genetic Variants

Gene:OPTC

OPTC

44 papers

RefSeq Summary

Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant qu...

Pfam Domains

LRR_8aa 153–213UCSCLeucine rich repeat

Gene Aliases

HGNC Name

opticin

HGNC Alias Name

oculoglycan

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
8 papers
NM_014359.4
p.L268P
c.803T>C
6 papers
NM_014359.4
p.R325W
c.973C>T
3 papers
NM_014359.4
p.T177R
c.530C>G
3 papers
NM_014359.4
p.R229H
c.686G>A
3 papers
NM_014359.4
p.G329S
c.985G>A
3 papers
NM_014359.4
p.R330H
c.989G>A
2 papers
NM_014359.4
p.E66G
c.197A>G
2 papers
NM_014359.4
p.I89T
c.266T>C
2 papers
NM_014359.4
p.C128R
c.382T>C
2 papers
NM_014359.4
p.F162F
c.486C>T
2 papers
NM_014359.4
p.R164L
c.491G>T
2 papers
NM_014359.4
p.E210D
c.630G>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."