Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.N480K

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
47 papers
NM_000261.2
p.N480K
c.1440C>G
Surrounding Variants
47 papers
NM_000261.2
p.N480K
c.1440C>A
11 papers
NM_000261.2
p.P481S
c.1441C>T
15 papers
NM_000261.2
p.P481T
c.1441C>A
23 papers
NM_000261.2
p.P481L
c.1442C>T
5 papers
NM_000261.2
p.P481R
c.1442C>G
1 paper
NM_000261.2
p.P481H
c.1442C>A
1 paper
NM_000261.2
p.Y479C
c.1436A>G
7 papers
NM_000261.2
p.Y479H
c.1435T>C
1 paper
NM_000261.2
p.D478E
c.1434C>G
1 paper
NM_000261.2
p.D478E
c.1434C>A
8 papers
NM_000261.2
p.E483*
c.1447G>T
2 papers
NM_000261.2
p.D478A
c.1433A>C
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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."