Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.E210D

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.E210D
c.630G>T
Surrounding Variants
2 papers
NM_014359.4
p.E210D
c.630G>C
1 paper
NM_014359.4
p.L203I
c.607C>A
1 paper
NM_014359.4
p.R198H
c.593G>A
1 paper
NM_014359.4
p.R198C
c.592C>T
1 paper
NM_014359.4
p.D195V
c.584A>T
1 paper
NM_014359.4
p.R229C
c.685C>T
3 papers
NM_014359.4
p.R229H
c.686G>A
1 paper
NM_014359.4
p.L184P
c.551T>C
1 paper
NM_014359.4
p.L184F
c.550C>T
1 paper
NM_014359.4
p.I182T
c.545T>C
1 paper
NM_014359.4
p.T177R
c.530C>G
3 papers
NM_014359.4
p.T177R
c.530C>G
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