Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.L117P

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.L117P
c.350T>C
Surrounding Variants
1 paper
NM_014359.4
p.L116V
c.346C>G
1 paper
NM_014359.4
p.G124S
c.370G>A
1 paper
NM_014359.4
p.P98S
c.292C>T
2 papers
NM_014359.4
p.I89T
c.266T>C
1 paper
NM_014359.4
p.V80G
c.239T>G
1 paper
NM_014359.4
p.G72R
c.214G>A
1 paper
NM_014359.4
p.L68F
c.202C>T
2 papers
NM_014359.4
p.E66G
c.197A>G
1 paper
NM_014359.4
p.G57V
c.170G>T
1 paper
NM_014359.4
p.R47W
c.139C>T
1 paper
NM_014359.4
p.E42*
c.124G>T
1 paper
NM_014359.4
p.D39N
c.115G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."