Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T140S

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.T140S
c.418A>T
Surrounding Variants
2 papers
NM_000261.2
p.T140S
c.419C>G
1 paper
NM_000261.2
p.E139*
c.415G>T
1 paper
NM_000261.2
p.E139K
c.415G>A
1 paper
NM_000261.2
p.Y142Y
c.426C>T
17 papers
NM_000261.2
p.S143C
c.427A>T
1 paper
NM_000261.2
p.R136I
c.407G>T
2 papers
NM_000261.2
p.T135I
c.404C>T
1 paper
NM_000261.2
p.N144K
c.432C>G
1 paper
NM_000261.2
p.T135S
c.404C>G
1 paper
NM_000261.2
p.N144K
c.432C>A
1 paper
NM_000261.2
p.T135S
c.403A>T
1 paper
NM_000261.2
p.Q134Q
c.402A>G
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