Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.V27M

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.V27M
c.79G>A
Surrounding Variants
1 paper
NM_000261.2
p.V27L
c.79G>C
2 papers
NM_000261.2
p.L26L
c.78G>C
27 papers
NM_000261.2
p.W28*
c.83G>A
1 paper
NM_000261.2
p.W28delFs
c.82delA
2 papers
NM_000261.2
p.W28*
c.84G>A
1 paper
NM_000261.2
p.Q19_A24insFs
c.56_72dup17
10 papers
NM_000261.2
p.C25R
c.73T>C
1 paper
NM_000261.2
p.V30M
c.88G>A
1 paper
NM_000261.2
p.A24T
c.70G>A
1 paper
NM_000261.2
p.V30A
c.89T>C
1 paper
NM_000261.2
p.L23Q
c.68T>A
1 paper
NM_000261.2
p.L23delFs
c.67delG
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