Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.P274R

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
9 papers
NM_000261.2
p.P274R
c.821C>G
Surrounding Variants
1 paper
NM_000261.2
p.P274L
c.821C>T
1 paper
NM_000261.2
p.P274P
c.822C>G
2 papers
NM_000261.2
p.D273delFs
c.819delG
1 paper
NM_000261.2
p.D273A
c.818A>C
2 papers
NM_000261.2
p.P276S
c.826C>T
2 papers
NM_000261.2
p.R272R
c.816A>T
2 papers
NM_000261.2
p.R272Q
c.815G>A
1 paper
NM_000261.2
p.V269_R272del0
c.806_814del9
6 papers
NM_000261.2
p.R272*
c.814C>T
29 papers
NM_000261.2
p.R272G
c.814C>G
1 paper
NM_000261.2
p.P276P
c.828C>A
1 paper
NM_000261.2
p.P279S
c.835C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."