Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.S372C

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.S372C
c.1115C>G
Surrounding Variants
1 paper
NM_000261.2
p.S372Y
c.1115C>A
1 paper
NM_000261.2
p.W373L
c.1118G>T
5 papers
NM_000261.2
p.W373*
c.1118G>A
8 papers
NM_000261.2
p.Y371D
c.1111T>G
2 papers
NM_000261.2
p.Y371H
c.1111T>C
1 paper
NM_000261.2
p.W373C
c.1119G>T
1 paper
NM_000261.2
p.W373C
c.1119G>C
5 papers
NM_000261.2
p.W373*
c.1119G>A
3 papers
NM_000261.2
p.P370P
c.1110G>A
5 papers
NM_000261.2
p.G374V
c.1121G>T
176 papers
NM_000261.2
p.P370L
c.1109C>T
1 paper
NM_000261.2
p.P370R
c.1109C>G
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