Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.M494K

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.M494K
c.1481T>A
Surrounding Variants
1 paper
NM_000261.2
p.M494insFs
c.1481dupT
7 papers
NM_000261.2
p.V495I
c.1483G>A
1 paper
NM_000261.2
p.N493H
c.1477A>C
1 paper
NM_000261.2
p.T496S
c.1486A>T
1 paper
NM_000261.2
p.T496P
c.1486A>C
1 paper
NM_000261.2
p.T496S
c.1487C>G
1 paper
NM_000261.2
p.N491S
c.1472A>G
1 paper
NM_000261.2
p.Y497*
c.1491T>G
1 paper
NM_000261.2
p.Y497*
c.1491T>A
1 paper
NM_000261.2
p.D498H
c.1492G>C
2 papers
NM_000261.2
p.D490Y
c.1468G>T
1 paper
NM_000261.2
p.D498D
c.1494C>T
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