Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A447V

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
3 papers
NM_000261.2
p.A447V
c.1340C>T
Surrounding Variants
3 papers
NM_000261.2
p.A447T
c.1339G>A
12 papers
NM_000261.2
p.T448P
c.1342A>C
4 papers
NM_000261.2
p.D446Y
c.1336G>T
2 papers
NM_000261.2
p.D446H
c.1336G>C
4 papers
NM_000261.2
p.V449I
c.1345G>A
32 papers
NM_000261.2
p.A445V
c.1334C>T
2 papers
NM_000261.2
p.A445T
c.1333G>A
16 papers
NM_000261.2
p.N450Y
c.1348A>T
6 papers
NM_000261.2
p.N450D
c.1348A>G
2 papers
NM_000261.2
p.N450S
c.1349A>G
1 paper
NM_000261.2
p.G434_T443del10
c.1300_1328del30
1 paper
NM_000261.2
p.T443I
c.1328C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."