Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L166L

MYOC

715 papers

RefSeq Summary

MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the t...

Pfam Domains

OLFaa 240–504UCSCOlfactomedin-like domain

Gene Aliases

HGNC Name

myocilin

HGNC Previous Symbol

GLC1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000261.2
p.L166L
c.498G>C
Surrounding Variants
1 paper
NM_000261.2
p.A167D
c.500C>A
2 papers
NM_000261.2
p.R168K
c.503G>A
1 paper
NM_000261.2
p.R168R
c.504G>A
3 papers
NM_000261.2
p.E164V
c.491A>T
1 paper
NM_000261.2
p.N163H
c.487A>C
1 paper
NM_000261.2
p.E162ins0
c.484_486dupGAA
2 papers
NM_000261.2
p.Q161R
c.482A>G
1 paper
NM_000261.2
p.S173T
c.518G>C
4 papers
NM_000261.2
p.L159L
c.477A>G
1 paper
NM_000261.2
p.R158R
c.474A>G
1 paper
NM_000261.2
p.R158insFs
c.473dupG
1 paper
NM_000261.2
p.R158delFs
c.473delC
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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."