Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.H316L

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.H316L
c.947A>T
Surrounding Variants
1 paper
NM_000261.2
p.H316R
c.947A>G
1 paper
NM_000261.2
p.K314N
c.942G>T
1 paper
NM_000261.2
p.K314N
c.942G>C
2 papers
NM_000261.2
p.L318L
c.952C>T
1 paper
NM_000261.2
p.L318V
c.952C>G
1 paper
NM_000261.2
p.L318Q
c.953T>A
17 papers
NM_000261.2
p.S313F
c.938C>T
1 paper
NM_000261.2
p.P319L
c.956C>T
2 papers
NM_000261.2
p.S313C
c.938C>G
1 paper
NM_000261.2
p.S313Y
c.938C>A
1 paper
NM_000261.2
p.P312R
c.935C>G
1 paper
NM_000261.2
p.Y311*
c.933C>G
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