Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.V315_L322insFs

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
1 paper
NM_000261.2
p.V315_L322insFs
c.943_965dup23
Surrounding Variants
33 papers
NM_000261.2
p.E323K
c.967G>A
1 paper
NM_000261.2
p.P321T
c.961C>A
4 papers
NM_000261.2
p.T325M
c.974C>T
10 papers
NM_000261.2
p.T325T
c.975G>A
1 paper
NM_000261.2
p.G326R
c.976G>C
6 papers
NM_000261.2
p.G326S
c.976G>A
1 paper
NM_000261.2
p.P319L
c.956C>T
1 paper
NM_000261.2
p.A327T
c.979G>A
1 paper
NM_000261.2
p.L318Q
c.953T>A
2 papers
NM_000261.2
p.L318L
c.952C>T
1 paper
NM_000261.2
p.L318V
c.952C>G
15 papers
NM_000261.2
p.V329M
c.985G>A
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