Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.W417R

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.W417R
c.1249T>A
Surrounding Variants
2 papers
NM_000261.2
p.W417R
c.1249T>C
1 paper
NM_000261.2
p.W417L
c.1250G>T
1 paper
NM_000261.2
p.T416N
c.1247C>A
1 paper
NM_000261.2
p.E418K
c.1252G>A
1 paper
NM_000261.2
p.E418G
c.1253A>G
3 papers
NM_000261.2
p.T419A
c.1255A>G
8 papers
NM_000261.2
p.E414K
c.1240G>A
2 papers
NM_000261.2
p.N420Y
c.1258A>T
2 papers
NM_000261.2
p.L413L
c.1239C>T
1 paper
NM_000261.2
p.N420K
c.1260C>G
1 paper
NM_000261.2
p.N420K
c.1260C>A
1 paper
NM_000261.2
p.L413F
c.1237C>T
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