Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.P62Q

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.P62Q
c.185C>A
Surrounding Variants
1 paper
NM_000261.2
p.P62delFs
c.185delG
1 paper
NM_000261.2
p.C61F
c.182G>T
1 paper
NM_000261.2
p.C61S
c.182G>C
6 papers
NM_000261.2
p.C61Y
c.182G>A
1 paper
NM_000261.2
p.C61S
c.181T>A
1 paper
NM_000261.2
p.Q64*
c.190C>T
1 paper
NM_000261.2
p.Q64H
c.192G>T
1 paper
NM_000261.2
p.Q64H
c.192G>C
1 paper
NM_000261.2
p.S65T
c.194G>C
2 papers
NM_000261.2
p.Q66L
c.197A>T
1 paper
NM_000261.2
p.Q66R
c.197A>G
2 papers
NM_000261.2
p.N57S
c.170A>G
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