Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.V202Splc

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.V202Splc
c.604+19G>C
Surrounding Variants
3 papers
NM_000261.2
p.V202Splc
c.604+16G>T
1 paper
NM_000261.2
p.V202Splc
c.604+14G>A
2 papers
NM_000261.2
p.V202Splc
c.604+13A>C
1 paper
NM_000261.2
p.V202Splc
c.604+1G>T
1 paper
NM_000261.2
p.V202I
c.604G>A
1 paper
NM_000261.2
p.R200*
c.598A>T
3 papers
NM_000261.2
p.V202Splc
c.604+50G>A
1 paper
NM_000261.2
p.G198S
c.592G>A
1 paper
NM_000261.2
p.R193Q
c.578G>A
1 paper
NM_000261.2
p.R193W
c.577C>T
1 paper
NM_000261.2
p.A192T
c.574G>A
1 paper
NM_000261.2
p.T191I
c.572C>T
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