Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T443I

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.T443I
c.1328C>T
Surrounding Variants
1 paper
NM_000261.2
p.T443S
c.1328C>G
2 papers
NM_000261.2
p.T443A
c.1327A>G
1 paper
NM_000261.2
p.G434_T443del10
c.1300_1328del30
2 papers
NM_000261.2
p.A445T
c.1333G>A
32 papers
NM_000261.2
p.A445V
c.1334C>T
4 papers
NM_000261.2
p.D446Y
c.1336G>T
2 papers
NM_000261.2
p.D446H
c.1336G>C
3 papers
NM_000261.2
p.A447T
c.1339G>A
1 paper
NM_000261.2
p.V439V
c.1317C>T
1 paper
NM_000261.2
p.V439V
c.1317C>G
3 papers
NM_000261.2
p.A447V
c.1340C>T
1 paper
NM_000261.2
p.V439I
c.1315G>A
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