Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L74L

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.L74L
c.220T>C
Surrounding Variants
1 paper
NM_000261.2
p.N73delFs
c.217_218delTT
4 papers
NM_000261.2
p.N73S
c.218A>G
1 paper
NM_000261.2
p.H72L
c.215A>T
1 paper
NM_000261.2
p.R76G
c.226A>G
89 papers
NM_000261.2
p.R76K
c.227G>A
2 papers
NM_000261.2
p.V70V
c.210C>T
4 papers
NM_000261.2
p.D77E
c.231C>G
4 papers
NM_000261.2
p.D77E
c.231C>A
1 paper
NM_000261.2
p.S78C
c.232A>T
1 paper
NM_000261.2
p.S79C
c.235A>T
1 paper
NM_000261.2
p.T80S
c.238A>T
1 paper
NM_000261.2
p.M68L
c.202A>T
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