Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G458D

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.G458D
c.1373G>A
Surrounding Variants
1 paper
NM_000261.2
p.G458C
c.1372G>T
1 paper
NM_000261.2
p.T457I
c.1370C>T
2 papers
NM_000261.2
p.S460insFs
c.1378_1379insT
1 paper
NM_000261.2
p.G456V
c.1367G>T
1 paper
NM_000261.2
p.G456D
c.1367G>A
1 paper
NM_000261.2
p.G456R
c.1366G>C
10 papers
NM_000261.2
p.T455K
c.1364C>A
4 papers
NM_000261.2
p.Y453del1
c.1357_1358delATA
2 papers
NM_000261.2
p.Y453fs
c.1357_1358fs
2 papers
NM_000261.2
p.Y453C
c.1358A>G
7 papers
NM_000261.2
p.Y453delFs
c.1357delA
1 paper
NM_000261.2
p.Y453H
c.1357T>C
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