Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E176fs

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.E176fs
c.526_527fs
Surrounding Variants
1 paper
NM_000261.2
p.Q175H
c.525G>T
1 paper
NM_000261.2
p.Q175H
c.525G>C
1 paper
NM_000261.2
p.E176delFs
c.526delC
1 paper
NM_000261.2
p.V177L
c.529G>T
1 paper
NM_000261.2
p.V177L
c.529G>C
1 paper
NM_000261.2
p.S173T
c.518G>C
4 papers
NM_000261.2
p.G183S
c.547G>A
1 paper
NM_000261.2
p.G183A
c.548G>C
1 paper
NM_000261.2
p.R168R
c.504G>A
2 papers
NM_000261.2
p.R168K
c.503G>A
1 paper
NM_000261.2
p.Q184K
c.550C>A
1 paper
NM_000261.2
p.A167D
c.500C>A
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