Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.R29G

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
1 paper
NM_014359.4
p.R29G
c.85A>G
Surrounding Variants
1 paper
NM_014359.4
p.K28K
c.84G>A
1 paper
NM_014359.4
p.R27K
c.80G>A
1 paper
NM_014359.4
p.D39N
c.115G>A
1 paper
NM_014359.4
p.E42*
c.124G>T
1 paper
NM_014359.4
p.R47W
c.139C>T
1 paper
NM_014359.4
p.L7R
c.20T>G
1 paper
NM_014359.4
p.F6L
c.16T>C
1 paper
NM_014359.4
p.M1I
c.3G>A
1 paper
NM_014359.4
p.M1I
c.3G>C
1 paper
NM_014359.4
p.M1I
c.3G>T
1 paper
NM_014359.4
p.G57V
c.170G>T
2 papers
NM_014359.4
p.E66G
c.197A>G
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