Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.C128R

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
2 papers
NM_014359.4
p.C128R
c.382T>C
Surrounding Variants
1 paper
NM_014359.4
p.G124Splc
c.371-1G>A
1 paper
NM_014359.4
p.V132M
c.394G>A
1 paper
NM_014359.4
p.C140Y
c.419G>A
1 paper
NM_014359.4
p.D147N
c.439G>A
1 paper
NM_014359.4
p.R161C
c.481C>T
2 papers
NM_014359.4
p.F162F
c.486C>T
1 paper
NM_014359.4
p.R164H
c.491G>A
2 papers
NM_014359.4
p.R164L
c.491G>T
1 paper
NM_014359.4
p.R167H
c.500G>A
3 papers
NM_014359.4
p.T177R
c.530C>G
1 paper
NM_014359.4
p.T177R
c.530C>G
1 paper
NM_014359.4
p.I182T
c.545T>C
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