Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D84N

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.D84N
c.250G>A
Surrounding Variants
1 paper
NM_000261.2
p.L85M
c.253C>A
4 papers
NM_000261.2
p.R82H
c.245G>A
22 papers
NM_000261.2
p.R82C
c.244C>T
1 paper
NM_000261.2
p.T80S
c.239C>G
1 paper
NM_000261.2
p.S79_T80Fs
c.236_239delinsAAAGGGGAAGGGGAFs
1 paper
NM_000261.2
p.T80S
c.238A>T
1 paper
NM_000261.2
p.S79C
c.235A>T
1 paper
NM_000261.2
p.S78C
c.232A>T
4 papers
NM_000261.2
p.D77E
c.231C>G
4 papers
NM_000261.2
p.D77E
c.231C>A
18 papers
NM_000261.2
p.R91*
c.271C>T
1 paper
NM_000261.2
p.R91Q
c.272G>A
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