Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.F4S

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
2 papers
NM_000261.2
p.F4S
c.11T>C
Surrounding Variants
1 paper
NM_000261.2
p.M1_F3del0
c.2_7del6
1 paper
NM_000261.2
p.C5W
c.15T>G
1 paper
NM_000261.2
p.R2K
c.5G>A
1 paper
NM_000261.2
p.M1I
c.3G>T
1 paper
NM_000261.2
p.M1T
c.2T>C
1 paper
NM_000261.2
p.R7H
c.20G>A
1 paper
NM_000261.2
p.R2_R7del6
c.4_20del18
1 paper
NM_000261.2
p.C8Y
c.23G>A
2 papers
NM_000261.2
p.C8*
c.24C>A
3 papers
NM_000261.2
p.C9S
c.25T>A
3 papers
NM_000261.2
p.C9S
c.26G>C
1 paper
NM_000261.2
p.S10G
c.28A>G
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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."