Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T281I

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.T281I
c.842C>T
Surrounding Variants
1 paper
NM_000261.2
p.T281A
c.841A>G
1 paper
NM_000261.2
p.P279S
c.835C>T
1 paper
NM_000261.2
p.T284S
c.850A>T
1 paper
NM_000261.2
p.T284S
c.851C>G
1 paper
NM_000261.2
p.T285P
c.853A>C
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
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.P276P
c.828C>A
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