Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L334V

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.L334V
c.1000C>G
Surrounding Variants
6 papers
NM_000261.2
p.L334P
c.1001T>C
2 papers
NM_000261.2
p.S333N
c.998G>A
3 papers
NM_000261.2
p.S333C
c.997A>T
1 paper
NM_000261.2
p.F336_Q337ins4
c.1006_1010ins12
2 papers
NM_000261.2
p.F336L
c.1006T>C
2 papers
NM_000261.2
p.G332R
c.994G>C
2 papers
NM_000261.2
p.G332R
c.994G>A
7 papers
NM_000261.2
p.S331L
c.992C>T
1 paper
NM_000261.2
p.F336F
c.1008C>T
3 papers
NM_000261.2
p.S331T
c.991T>A
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."