Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.K503E

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.K503E
c.1507A>G
Surrounding Variants
20 papers
NM_000261.2
p.S502P
c.1504T>C
1 paper
NM_000261.2
p.*505G
c.1513T>G
1 paper
NM_000261.2
p.*505fs
c.1513_1514fs
1 paper
NM_000261.2
p.*505L
c.1514G>T
13 papers
NM_000261.2
p.K500R
c.1499A>G
1 paper
NM_000261.2
p.*505W
c.1515A>G
2 papers
NM_000261.2
p.K500T
c.1499A>C
10 papers
NM_000261.2
p.I499S
c.1496T>G
1 paper
NM_000261.2
p.I499N
c.1496T>A
29 papers
NM_000261.2
p.I499F
c.1495A>T
1 paper
NM_000261.2
p.D498D
c.1494C>T
1 paper
NM_000261.2
p.D498H
c.1492G>C
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