Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.K405K

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.K405K
c.1215A>G
Surrounding Variants
1 paper
NM_000261.2
p.L406L
c.1218G>T
1 paper
NM_000261.2
p.L403L
c.1209C>T
1 paper
NM_000261.2
p.N407K
c.1221C>G
1 paper
NM_000261.2
p.L403_S404insFs
c.1209_1210ins10
1 paper
NM_000261.2
p.N407K
c.1221C>A
1 paper
NM_000261.2
p.A400_L403insFs
c.1198_1207dup10
1 paper
NM_000261.2
p.E409K
c.1225G>A
4 papers
NM_000261.2
p.V402I
c.1204G>A
1 paper
NM_000261.2
p.E409A
c.1226A>C
1 paper
NM_000261.2
p.E409D
c.1227G>T
1 paper
NM_000261.2
p.E409D
c.1227G>C
3 papers
NM_000261.2
p.I401T
c.1202T>C
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