Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.K358E

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.K358E
c.1072A>G
Surrounding Variants
1 paper
NM_000261.2
p.E359K
c.1075G>A
1 paper
NM_000261.2
p.E357K
c.1069G>A
1 paper
NM_000261.2
p.A356P
c.1066G>C
1 paper
NM_000261.2
p.I360L
c.1078A>C
1 paper
NM_000261.2
p.K355_E359delFs
c.1064_1076del13
11 papers
NM_000261.2
p.I360N
c.1079T>A
10 papers
NM_000261.2
p.P361S
c.1081C>T
1 paper
NM_000261.2
p.P361R
c.1082C>G
1 paper
NM_000261.2
p.G362fs
c.1084_1085fs
3 papers
NM_000261.2
p.G362E
c.1085G>A
50 papers
NM_000261.2
p.T353I
c.1058C>T
1 paper
NM_000261.2
p.G362delFs
c.1085delC
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