Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y479C

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.Y479C
c.1436A>G
Surrounding Variants
7 papers
NM_000261.2
p.Y479H
c.1435T>C
1 paper
NM_000261.2
p.D478E
c.1434C>G
1 paper
NM_000261.2
p.D478E
c.1434C>A
2 papers
NM_000261.2
p.D478A
c.1433A>C
1 paper
NM_000261.2
p.D478Y
c.1432G>T
2 papers
NM_000261.2
p.D478H
c.1432G>C
4 papers
NM_000261.2
p.D478N
c.1432G>A
47 papers
NM_000261.2
p.N480K
c.1440C>G
47 papers
NM_000261.2
p.N480K
c.1440C>A
11 papers
NM_000261.2
p.P481S
c.1441C>T
15 papers
NM_000261.2
p.P481T
c.1441C>A
29 papers
NM_000261.2
p.I477S
c.1430T>G
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