Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R422S

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.R422S
c.1264C>A
Surrounding Variants
15 papers
NM_000261.2
p.R422C
c.1264C>T
14 papers
NM_000261.2
p.R422H
c.1265G>A
65 papers
NM_000261.2
p.K423E
c.1267A>G
3 papers
NM_000261.2
p.K423Q
c.1267A>C
1 paper
NM_000261.2
p.N420K
c.1260C>G
1 paper
NM_000261.2
p.N420K
c.1260C>A
2 papers
NM_000261.2
p.N420Y
c.1258A>T
2 papers
NM_000261.2
p.Q424H
c.1272G>T
2 papers
NM_000261.2
p.Q424H
c.1272G>C
8 papers
NM_000261.2
p.S425P
c.1273T>C
3 papers
NM_000261.2
p.T419A
c.1255A>G
3 papers
NM_000261.2
p.S425*
c.1274C>G
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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."