Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G364S

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
4 papers
NM_000261.2
p.G364S
c.1090G>A
Surrounding Variants
55 papers
NM_000261.2
p.G364V
c.1091G>T
14 papers
NM_000261.2
p.A363T
c.1087G>A
1 paper
NM_000261.2
p.G362delFs
c.1085delC
3 papers
NM_000261.2
p.G362E
c.1085G>A
1 paper
NM_000261.2
p.Y365*
c.1095C>G
1 paper
NM_000261.2
p.Y365*
c.1095C>A
1 paper
NM_000261.2
p.G362fs
c.1084_1085fs
1 paper
NM_000261.2
p.H366R
c.1097A>G
1 paper
NM_000261.2
p.P361R
c.1082C>G
71 papers
NM_000261.2
p.G367R
c.1099G>C
74 papers
NM_000261.2
p.G367R
c.1099G>A
10 papers
NM_000261.2
p.P361S
c.1081C>T
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