Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.F336F

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.F336F
c.1008C>T
Surrounding Variants
1 paper
NM_000261.2
p.Q337fs
c.1009_1010fs
8 papers
NM_000261.2
p.Q337*
c.1009C>T
7 papers
NM_000261.2
p.Q337E
c.1009C>G
1 paper
NM_000261.2
p.Q337K
c.1009C>A
1 paper
NM_000261.2
p.F336_Q337ins4
c.1006_1010ins12
2 papers
NM_000261.2
p.F336L
c.1006T>C
22 papers
NM_000261.2
p.Q337R
c.1010A>G
2 papers
NM_000261.2
p.Q337delFs
c.1009delG
3 papers
NM_000261.2
p.Q337H
c.1011G>T
3 papers
NM_000261.2
p.Q337H
c.1011G>C
6 papers
NM_000261.2
p.L334P
c.1001T>C
1 paper
NM_000261.2
p.A339S
c.1015G>T
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