Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E385A

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.E385A
c.1154A>C
Surrounding Variants
7 papers
NM_000261.2
p.E385K
c.1153G>A
2 papers
NM_000261.2
p.A386S
c.1156G>T
8 papers
NM_000261.2
p.D384G
c.1151A>G
1 paper
NM_000261.2
p.D384A
c.1151A>C
5 papers
NM_000261.2
p.D384H
c.1150G>C
7 papers
NM_000261.2
p.D384N
c.1150G>A
1 paper
NM_000261.2
p.G387S
c.1159G>A
9 papers
NM_000261.2
p.G387D
c.1160G>A
1 paper
NM_000261.2
p.A382V
c.1145C>T
1 paper
NM_000261.2
p.L381S
c.1142T>C
1 paper
NM_000261.2
p.V390G
c.1169T>G
12 papers
NM_000261.2
p.D380G
c.1139A>G
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