Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A400D

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.A400D
c.1199C>A
Surrounding Variants
1 paper
NM_000261.2
p.I401L
c.1201A>C
3 papers
NM_000261.2
p.I401T
c.1202T>C
20 papers
NM_000261.2
p.G399V
c.1196G>T
9 papers
NM_000261.2
p.G399D
c.1196G>A
4 papers
NM_000261.2
p.V402I
c.1204G>A
42 papers
NM_000261.2
p.K398R
c.1193A>G
1 paper
NM_000261.2
p.A400_L403insFs
c.1198_1207dup10
1 paper
NM_000261.2
p.A397V
c.1190C>T
1 paper
NM_000261.2
p.E396ins0
c.1186_1188dupGAG
2 papers
NM_000261.2
p.A397D
c.1190C>A
1 paper
NM_000261.2
p.L403L
c.1209C>T
1 paper
NM_000261.2
p.L403_S404insFs
c.1209_1210ins10
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