Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y497*

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.Y497*
c.1491T>G
Surrounding Variants
1 paper
NM_000261.2
p.Y497*
c.1491T>A
1 paper
NM_000261.2
p.D498H
c.1492G>C
1 paper
NM_000261.2
p.D498D
c.1494C>T
1 paper
NM_000261.2
p.T496S
c.1487C>G
29 papers
NM_000261.2
p.I499F
c.1495A>T
10 papers
NM_000261.2
p.I499S
c.1496T>G
1 paper
NM_000261.2
p.I499N
c.1496T>A
1 paper
NM_000261.2
p.T496S
c.1486A>T
1 paper
NM_000261.2
p.T496P
c.1486A>C
7 papers
NM_000261.2
p.V495I
c.1483G>A
13 papers
NM_000261.2
p.K500R
c.1499A>G
2 papers
NM_000261.2
p.K500T
c.1499A>C
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."