Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.S52G

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.S52G
c.154A>G
Surrounding Variants
1 paper
NM_000261.2
p.V53M
c.157G>A
19 papers
NM_000261.2
p.V53A
c.158T>C
1 paper
NM_000261.2
p.Y49S
c.146A>C
1 paper
NM_000261.2
p.S55R
c.163A>C
63 papers
NM_000261.2
p.Q48H
c.144G>T
60 papers
NM_000261.2
p.Q48H
c.144G>C
2 papers
NM_000261.2
p.S55T
c.164G>C
2 papers
NM_000261.2
p.Q48Q
c.144G>A
1 paper
NM_000261.2
p.S55R
c.165T>G
1 paper
NM_000261.2
p.S55R
c.165T>A
4 papers
NM_000261.2
p.Q48E
c.142C>G
1 paper
NM_000261.2
p.C47C
c.141C>T
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