Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y330S

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.Y330S
c.989A>C
Surrounding Variants
1 paper
NM_000261.2
p.E323_V329ins2
c.967_987dup21
1 paper
NM_000261.2
p.Y330*
c.990C>G
1 paper
NM_000261.2
p.Y330*
c.990C>A
3 papers
NM_000261.2
p.S331T
c.991T>A
7 papers
NM_000261.2
p.S331L
c.992C>T
15 papers
NM_000261.2
p.V329M
c.985G>A
2 papers
NM_000261.2
p.G332R
c.994G>C
2 papers
NM_000261.2
p.G332R
c.994G>A
3 papers
NM_000261.2
p.S333C
c.997A>T
2 papers
NM_000261.2
p.S333N
c.998G>A
1 paper
NM_000261.2
p.A327T
c.979G>A
13 papers
NM_000261.2
p.L334V
c.1000C>G
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