Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E340E

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.E340E
c.1020G>A
Surrounding Variants
16 papers
NM_000261.2
p.S341P
c.1021T>C
1 paper
NM_000261.2
p.S341Y
c.1022C>A
4 papers
NM_000261.2
p.R342G
c.1024A>G
1 paper
NM_000261.2
p.A339S
c.1015G>T
8 papers
NM_000261.2
p.R342K
c.1025G>A
2 papers
NM_000261.2
p.A339T
c.1015G>A
3 papers
NM_000261.2
p.Q337H
c.1011G>T
3 papers
NM_000261.2
p.Q337H
c.1011G>C
22 papers
NM_000261.2
p.Q337R
c.1010A>G
2 papers
NM_000261.2
p.Q337delFs
c.1009delG
1 paper
NM_000261.2
p.Q337fs
c.1009_1010fs
8 papers
NM_000261.2
p.Q337*
c.1009C>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."