Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R296C

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
5 papers
NM_000261.2
p.R296C
c.886C>T
Surrounding Variants
1 paper
NM_000261.2
p.R296L
c.887G>T
4 papers
NM_000261.2
p.R296H
c.887G>A
1 paper
NM_000261.2
p.V295A
c.884T>C
1 paper
NM_000261.2
p.V295F
c.883G>T
1 paper
NM_000261.2
p.Q297R
c.890A>G
4 papers
NM_000261.2
p.Q297H
c.891G>T
3 papers
NM_000261.2
p.Q297H
c.891G>C
1 paper
NM_000261.2
p.D294A
c.881A>C
1 paper
NM_000261.2
p.D294N
c.880G>A
2 papers
NM_000261.2
p.T293T
c.879G>A
3 papers
NM_000261.2
p.T293M
c.878C>T
35 papers
NM_000261.2
p.T293K
c.878C>A
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