Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G12R

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
20 papers
NM_000261.2
p.G12R
c.34G>A
Surrounding Variants
23 papers
NM_000261.2
p.G12R
c.34G>C
1 paper
NM_000261.2
p.G12G
c.36G>A
6 papers
NM_000261.2
p.P13L
c.38C>T
5 papers
NM_000261.2
p.P13P
c.39T>G
1 paper
NM_000261.2
p.S10G
c.28A>G
1 paper
NM_000261.2
p.E14A
c.41A>C
3 papers
NM_000261.2
p.C9S
c.26G>C
3 papers
NM_000261.2
p.C9S
c.25T>A
2 papers
NM_000261.2
p.C8*
c.24C>A
1 paper
NM_000261.2
p.C8Y
c.23G>A
1 paper
NM_000261.2
p.R2_R7del6
c.4_20del18
1 paper
NM_000261.2
p.P16T
c.46C>A
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