Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R91Q

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.R91Q
c.272G>A
Surrounding Variants
18 papers
NM_000261.2
p.R91*
c.271C>T
1 paper
NM_000261.2
p.S93S
c.279C>T
1 paper
NM_000261.2
p.S94F
c.281C>T
8 papers
NM_000261.2
p.L95P
c.284T>C
1 paper
NM_000261.2
p.E96V
c.287A>T
2 papers
NM_000261.2
p.E96D
c.288G>T
2 papers
NM_000261.2
p.E96D
c.288G>C
1 paper
NM_000261.2
p.E96E
c.288G>A
1 paper
NM_000261.2
p.L85M
c.253C>A
1 paper
NM_000261.2
p.D84N
c.250G>A
1 paper
NM_000261.2
p.L99L
c.297C>A
4 papers
NM_000261.2
p.R82H
c.245G>A
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