Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T285P

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.T285P
c.853A>C
Surrounding Variants
6 papers
NM_000261.2
p.T285M
c.854C>T
1 paper
NM_000261.2
p.T285R
c.854C>G
1 paper
NM_000261.2
p.T285K
c.854C>A
4 papers
NM_000261.2
p.T285T
c.855G>T
1 paper
NM_000261.2
p.T284S
c.851C>G
22 papers
NM_000261.2
p.W286R
c.856T>C
22 papers
NM_000261.2
p.W286R
c.856T>A
1 paper
NM_000261.2
p.T284S
c.850A>T
1 paper
NM_000261.2
p.W286L
c.857G>T
1 paper
NM_000261.2
p.W286delFs
c.856delA
1 paper
NM_000261.2
p.R287K
c.860G>A
5 papers
NM_000261.2
p.I288I
c.864C>T
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