Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.K266K

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.K266K
c.798G>A
Surrounding Variants
1 paper
NM_000261.2
p.Y267C
c.800A>G
1 paper
NM_000261.2
p.G268A
c.803G>C
6 papers
NM_000261.2
p.R272*
c.814C>T
29 papers
NM_000261.2
p.R272G
c.814C>G
5 papers
NM_000261.2
p.E261K
c.781G>A
2 papers
NM_000261.2
p.R272Q
c.815G>A
1 paper
NM_000261.2
p.V269_R272del0
c.806_814del9
2 papers
NM_000261.2
p.R272R
c.816A>T
1 paper
NM_000261.2
p.A260A
c.780A>G
1 paper
NM_000261.2
p.D273A
c.818A>C
1 paper
NM_000261.2
p.T259I
c.776C>T
1 paper
NM_000261.2
p.P274L
c.821C>T
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