Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T377R

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
13 papers
NM_000261.2
p.T377R
c.1130C>G
Surrounding Variants
93 papers
NM_000261.2
p.T377M
c.1130C>T
9 papers
NM_000261.2
p.T377K
c.1130C>A
2 papers
NM_000261.2
p.T377A
c.1129A>G
2 papers
NM_000261.2
p.D378N
c.1132G>A
7 papers
NM_000261.2
p.D378G
c.1133A>G
1 paper
NM_000261.2
p.D378A
c.1133A>C
3 papers
NM_000261.2
p.D380Y
c.1138G>T
14 papers
NM_000261.2
p.D380H
c.1138G>C
14 papers
NM_000261.2
p.D380N
c.1138G>A
5 papers
NM_000261.2
p.G374V
c.1121G>T
12 papers
NM_000261.2
p.D380G
c.1139A>G
51 papers
NM_000261.2
p.D380A
c.1139A>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."