Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.S55R

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.S55R
c.165T>G
Surrounding Variants
1 paper
NM_000261.2
p.S55R
c.165T>A
2 papers
NM_000261.2
p.S55T
c.164G>C
1 paper
NM_000261.2
p.S55R
c.163A>C
1 paper
NM_000261.2
p.N57Y
c.169A>T
7 papers
NM_000261.2
p.N57D
c.169A>G
2 papers
NM_000261.2
p.N57S
c.170A>G
19 papers
NM_000261.2
p.V53A
c.158T>C
1 paper
NM_000261.2
p.V53M
c.157G>A
2 papers
NM_000261.2
p.S52G
c.154A>G
1 paper
NM_000261.2
p.C61S
c.181T>A
1 paper
NM_000261.2
p.C61F
c.182G>T
1 paper
NM_000261.2
p.C61S
c.182G>C
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