Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.L268P

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
Selected Variant
8 papers
NM_014359.4
p.L268P
c.803T>C
Surrounding Variants
2 papers
NM_014359.4
p.P267L
c.800C>T
2 papers
NM_014359.4
p.L270L
c.810G>A
1 paper
NM_014359.4
p.R244_A245Splc
c.733-1G>T
1 paper
NM_014359.4
p.D286fs
c.856_857fs
1 paper
NM_014359.4
p.V287I
c.859G>A
1 paper
NM_014359.4
p.V287L
c.859G>C
1 paper
NM_014359.4
p.D290insFs
c.868dupG
2 papers
NM_014359.4
p.R298H
c.893G>A
1 paper
NM_014359.4
p.E302G
c.905A>G
1 paper
NM_014359.4
p.N312S
c.935A>G
6 papers
NM_014359.4
p.R325W
c.973C>T
3 papers
NM_014359.4
p.G329S
c.985G>A
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