Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y473C

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
5 papers
NM_000261.2
p.Y473C
c.1418A>G
Surrounding Variants
1 paper
NM_000261.2
p.S475G
c.1423A>G
19 papers
NM_000261.2
p.Y471C
c.1412A>G
1 paper
NM_000261.2
p.R470delFs
c.1410delG
2 papers
NM_000261.2
p.M476L
c.1426A>T
2 papers
NM_000261.2
p.M476L
c.1426A>C
4 papers
NM_000261.2
p.M476R
c.1427T>G
1 paper
NM_000261.2
p.R470L
c.1409G>T
4 papers
NM_000261.2
p.R470H
c.1409G>A
15 papers
NM_000261.2
p.R470C
c.1408C>T
29 papers
NM_000261.2
p.I477S
c.1430T>G
56 papers
NM_000261.2
p.I477N
c.1430T>A
1 paper
NM_000261.2
p.N469S
c.1406A>G
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