Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A107V

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.A107V
c.320C>T
Surrounding Variants
1 paper
NM_000261.2
p.A108V
c.323C>T
2 papers
NM_000261.2
p.A108G
c.323C>G
1 paper
NM_000261.2
p.Q106*
c.316C>T
2 papers
NM_000261.2
p.T103T
c.309C>T
1 paper
NM_000261.2
p.Q111*
c.331C>T
1 paper
NM_000261.2
p.P110insFs
c.329dupC
3 papers
NM_000261.2
p.L102L
c.306G>A
1 paper
NM_000261.2
p.E112K
c.334G>A
1 paper
NM_000261.2
p.Q101Q
c.303A>G
1 paper
NM_000261.2
p.E112_T113insFs
c.336_337ins4
1 paper
NM_000261.2
p.T113N
c.338C>A
1 paper
NM_000261.2
p.Q101L
c.302A>T
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