Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Q368*

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
231 papers
NM_000261.2
p.Q368*
c.1102C>T
Surrounding Variants
1 paper
NM_000261.2
p.G367_Q368delins
c.1100_1103delinsT
10 papers
NM_000261.2
p.F369L
c.1105T>C
71 papers
NM_000261.2
p.G367R
c.1099G>C
74 papers
NM_000261.2
p.G367R
c.1099G>A
9 papers
NM_000261.2
p.F369L
c.1107C>G
9 papers
NM_000261.2
p.F369L
c.1107C>A
1 paper
NM_000261.2
p.H366R
c.1097A>G
1 paper
NM_000261.2
p.P370S
c.1108C>T
176 papers
NM_000261.2
p.P370L
c.1109C>T
1 paper
NM_000261.2
p.P370R
c.1109C>G
1 paper
NM_000261.2
p.Y365*
c.1095C>G
1 paper
NM_000261.2
p.P370Q
c.1109C>A
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