Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.C185S

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.C185S
c.554G>C
Surrounding Variants
1 paper
NM_000261.2
p.C185S
c.553T>A
1 paper
NM_000261.2
p.C185del1
c.553_555delACA
1 paper
NM_000261.2
p.P186H
c.557C>A
1 paper
NM_000261.2
p.Q184K
c.550C>A
1 paper
NM_000261.2
p.G183A
c.548G>C
2 papers
NM_000261.2
p.Q187H
c.561G>T
2 papers
NM_000261.2
p.Q187H
c.561G>C
4 papers
NM_000261.2
p.G183S
c.547G>A
1 paper
NM_000261.2
p.R189L
c.566G>T
2 papers
NM_000261.2
p.R189Q
c.566G>A
1 paper
NM_000261.2
p.T191I
c.572C>T
1 paper
NM_000261.2
p.A192T
c.574G>A
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