Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Q297R

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.Q297R
c.890A>G
Surrounding Variants
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.R296L
c.887G>T
4 papers
NM_000261.2
p.R296H
c.887G>A
5 papers
NM_000261.2
p.R296C
c.886C>T
1 paper
NM_000261.2
p.V295A
c.884T>C
1 paper
NM_000261.2
p.V295F
c.883G>T
20 papers
NM_000261.2
p.E300K
c.898G>A
2 papers
NM_000261.2
p.E300G
c.899A>G
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."