Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L99L

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.L99L
c.297C>A
Surrounding Variants
1 paper
NM_000261.2
p.Q101*
c.301C>T
1 paper
NM_000261.2
p.Q101L
c.302A>T
1 paper
NM_000261.2
p.Q101Q
c.303A>G
2 papers
NM_000261.2
p.E96D
c.288G>T
2 papers
NM_000261.2
p.E96D
c.288G>C
3 papers
NM_000261.2
p.L102L
c.306G>A
1 paper
NM_000261.2
p.E96E
c.288G>A
1 paper
NM_000261.2
p.E96V
c.287A>T
2 papers
NM_000261.2
p.T103T
c.309C>T
8 papers
NM_000261.2
p.L95P
c.284T>C
1 paper
NM_000261.2
p.S94F
c.281C>T
1 paper
NM_000261.2
p.S93S
c.279C>T
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