Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G246R

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
28 papers
NM_000261.2
p.G246R
c.736G>C
Surrounding Variants
1 paper
NM_000261.2
p.G246*
c.736G>T
29 papers
NM_000261.2
p.G246R
c.736G>A
1 paper
NM_000261.2
p.C245F
c.734G>T
28 papers
NM_000261.2
p.C245Y
c.734G>A
2 papers
NM_000261.2
p.C245G
c.733T>G
2 papers
NM_000261.2
p.E247*
c.739G>T
6 papers
NM_000261.2
p.G244V
c.731G>T
2 papers
NM_000261.2
p.G244A
c.731G>C
1 paper
NM_000261.2
p.G244E
c.731G>A
2 papers
NM_000261.2
p.G244*
c.730G>T
3 papers
NM_000261.2
p.G244R
c.730G>C
3 papers
NM_000261.2
p.G244R
c.730G>A
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