Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.C433W

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.C433W
c.1299T>G
Surrounding Variants
6 papers
NM_000261.2
p.G434S
c.1300G>A
3 papers
NM_000261.2
p.C433Y
c.1298G>A
37 papers
NM_000261.2
p.C433R
c.1297T>C
1 paper
NM_000261.2
p.G434D
c.1301G>A
1 paper
NM_000261.2
p.T435I
c.1304C>T
1 paper
NM_000261.2
p.I432V
c.1294A>G
1 paper
NM_000261.2
p.I431I
c.1293C>T
1 paper
NM_000261.2
p.I431M
c.1293C>G
1 paper
NM_000261.2
p.I431V
c.1291A>G
5 papers
NM_000261.2
p.F430L
c.1290C>G
4 papers
NM_000261.2
p.F430L
c.1290C>A
132 papers
NM_000261.2
p.Y437H
c.1309T>C
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