Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D289E

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.D289E
c.867C>A
Surrounding Variants
1 paper
NM_000261.2
p.D289E
c.867C>G
2 papers
NM_000261.2
p.T290A
c.868A>G
1 paper
NM_000261.2
p.T290insFs
c.868_869insC
3 papers
NM_000261.2
p.D289N
c.865G>A
1 paper
NM_000261.2
p.T290insFs
c.868dupA
5 papers
NM_000261.2
p.I288I
c.864C>T
3 papers
NM_000261.2
p.I288M
c.864C>G
1 paper
NM_000261.2
p.V291I
c.871G>A
1 paper
NM_000261.2
p.R287K
c.860G>A
1 paper
NM_000261.2
p.G292D
c.875G>A
1 paper
NM_000261.2
p.W286L
c.857G>T
1 paper
NM_000261.2
p.W286delFs
c.856delA
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