Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y365*

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.Y365*
c.1095C>A
Surrounding Variants
1 paper
NM_000261.2
p.Y365*
c.1095C>G
1 paper
NM_000261.2
p.H366R
c.1097A>G
55 papers
NM_000261.2
p.G364V
c.1091G>T
71 papers
NM_000261.2
p.G367R
c.1099G>C
74 papers
NM_000261.2
p.G367R
c.1099G>A
4 papers
NM_000261.2
p.G364S
c.1090G>A
231 papers
NM_000261.2
p.Q368*
c.1102C>T
14 papers
NM_000261.2
p.A363T
c.1087G>A
1 paper
NM_000261.2
p.G367_Q368delins
c.1100_1103delinsT
1 paper
NM_000261.2
p.G362delFs
c.1085delC
10 papers
NM_000261.2
p.F369L
c.1105T>C
3 papers
NM_000261.2
p.G362E
c.1085G>A
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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."