Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y347*

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.Y347*
c.1041T>G
Surrounding Variants
14 papers
NM_000261.2
p.Y347Y
c.1041T>C
4 papers
NM_000261.2
p.Y347*
c.1041T>A
2 papers
NM_000261.2
p.Y347H
c.1039T>C
3 papers
NM_000261.2
p.R346T
c.1037G>C
1 paper
NM_000261.2
p.R346K
c.1037G>A
2 papers
NM_000261.2
p.R346G
c.1036A>G
8 papers
NM_000261.2
p.I345M
c.1035A>G
2 papers
NM_000261.2
p.I345T
c.1034T>C
1 paper
NM_000261.2
p.T351A
c.1051A>G
1 paper
NM_000261.2
p.T351I
c.1052C>T
2 papers
NM_000261.2
p.T351N
c.1052C>A
2 papers
NM_000261.2
p.T351T
c.1053C>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."