Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T351N

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
2 papers
NM_000261.2
p.T351N
c.1052C>A
Surrounding Variants
1 paper
NM_000261.2
p.T351I
c.1052C>T
2 papers
NM_000261.2
p.T351T
c.1053C>T
1 paper
NM_000261.2
p.T351A
c.1051A>G
4 papers
NM_000261.2
p.E352Q
c.1054G>C
33 papers
NM_000261.2
p.E352K
c.1054G>A
1 paper
NM_000261.2
p.E352A
c.1055A>C
1 paper
NM_000261.2
p.E352D
c.1056G>T
1 paper
NM_000261.2
p.E352D
c.1056G>C
50 papers
NM_000261.2
p.T353I
c.1058C>T
3 papers
NM_000261.2
p.Y347*
c.1041T>G
14 papers
NM_000261.2
p.Y347Y
c.1041T>C
4 papers
NM_000261.2
p.Y347*
c.1041T>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."