Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Q19*

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.Q19*
c.55C>T
Surrounding Variants
1 paper
NM_000261.2
p.Q19K
c.55C>A
1 paper
NM_000261.2
p.Q19L
c.56A>T
18 papers
NM_000261.2
p.Q19H
c.57G>T
17 papers
NM_000261.2
p.Q19H
c.57G>C
1 paper
NM_000261.2
p.V18F
c.52G>T
5 papers
NM_000261.2
p.A17S
c.49G>T
5 papers
NM_000261.2
p.P16L
c.47C>T
1 paper
NM_000261.2
p.P16T
c.46C>A
1 paper
NM_000261.2
p.L22R
c.65T>G
1 paper
NM_000261.2
p.L22P
c.65T>C
1 paper
NM_000261.2
p.L23Q
c.68T>A
1 paper
NM_000261.2
p.L23delFs
c.67delG
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