Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y453H

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.Y453H
c.1357T>C
Surrounding Variants
5 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
2 papers
NM_000261.2
p.Y453fs
c.1357_1358fs
1 paper
NM_000261.2
p.A452P
c.1354G>C
4 papers
NM_000261.2
p.Y453del1
c.1357_1358delATA
1 paper
NM_000261.2
p.F451F
c.1353T>C
10 papers
NM_000261.2
p.T455K
c.1364C>A
2 papers
NM_000261.2
p.N450S
c.1349A>G
1 paper
NM_000261.2
p.G456R
c.1366G>C
16 papers
NM_000261.2
p.N450Y
c.1348A>T
6 papers
NM_000261.2
p.N450D
c.1348A>G
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