Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L146V

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.L146V
c.436C>G
Surrounding Variants
3 papers
NM_000261.2
p.R147*
c.439C>T
1 paper
NM_000261.2
p.R147Q
c.440G>A
1 paper
NM_000261.2
p.N144K
c.432C>G
1 paper
NM_000261.2
p.N144K
c.432C>A
6 papers
NM_000261.2
p.D148G
c.443A>G
1 paper
NM_000261.2
p.D148A
c.443A>C
2 papers
NM_000261.2
p.L145_D148delFs
c.434_443del10
17 papers
NM_000261.2
p.S143C
c.427A>T
1 paper
NM_000261.2
p.Y142Y
c.426C>T
1 paper
NM_000261.2
p.V151F
c.451G>T
2 papers
NM_000261.2
p.T140S
c.419C>G
2 papers
NM_000261.2
p.T140S
c.418A>T
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