Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D302G

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.D302G
c.905A>G
Surrounding Variants
1 paper
NM_000261.2
p.D302N
c.904G>A
1 paper
NM_000261.2
p.D302D
c.906C>T
2 papers
NM_000261.2
p.L303F
c.907C>T
4 papers
NM_000261.2
p.L303I
c.907C>A
1 paper
NM_000261.2
p.I304T
c.911T>C
2 papers
NM_000261.2
p.E300G
c.899A>G
20 papers
NM_000261.2
p.E300K
c.898G>A
1 paper
NM_000261.2
p.S305G
c.913A>G
4 papers
NM_000261.2
p.Q297H
c.891G>T
3 papers
NM_000261.2
p.Q297H
c.891G>C
1 paper
NM_000261.2
p.Q297R
c.890A>G
1 paper
NM_000261.2
p.M308V
c.922A>G
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