Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E115K

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
2 papers
NM_000261.2
p.E115K
c.343G>A
Surrounding Variants
1 paper
NM_000261.2
p.E115*
c.343G>T
1 paper
NM_000261.2
p.E115A
c.344A>C
1 paper
NM_000261.2
p.E115D
c.345G>T
1 paper
NM_000261.2
p.E115D
c.345G>C
1 paper
NM_000261.2
p.T113fs
c.337_338fs
1 paper
NM_000261.2
p.T113T
c.339C>A
1 paper
NM_000261.2
p.T113N
c.338C>A
1 paper
NM_000261.2
p.G116delFs
c.347delC
1 paper
NM_000261.2
p.E112_T113insFs
c.336_337ins4
1 paper
NM_000261.2
p.L117P
c.350T>C
1 paper
NM_000261.2
p.E112K
c.334G>A
1 paper
NM_000261.2
p.Q118L
c.353A>T
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