Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R125delFs

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.R125delFs
c.375delC
Surrounding Variants
16 papers
NM_000261.2
p.R126W
c.376C>T
2 papers
NM_000261.2
p.R126Q
c.377G>A
2 papers
NM_000261.2
p.E127Q
c.379G>C
2 papers
NM_000261.2
p.L124L
c.372G>C
6 papers
NM_000261.2
p.R128W
c.382C>T
1 paper
NM_000261.2
p.L124L
c.370C>T
1 paper
NM_000261.2
p.R128P
c.383G>C
1 paper
NM_000261.2
p.R128Q
c.383G>A
5 papers
NM_000261.2
p.T123T
c.369C>T
1 paper
NM_000261.2
p.R128R
c.384G>C
5 papers
NM_000261.2
p.G122G
c.366C>T
2 papers
NM_000261.2
p.G122G
c.366C>A
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