Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.V390G

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.V390G
c.1169T>G
Surrounding Variants
8 papers
NM_000261.2
p.S393R
c.1177A>C
1 paper
NM_000261.2
p.S393T
c.1178G>C
9 papers
NM_000261.2
p.G387D
c.1160G>A
5 papers
NM_000261.2
p.S393N
c.1178G>A
1 paper
NM_000261.2
p.G387S
c.1159G>A
8 papers
NM_000261.2
p.S393R
c.1179C>G
8 papers
NM_000261.2
p.S393R
c.1179C>A
2 papers
NM_000261.2
p.A386S
c.1156G>T
2 papers
NM_000261.2
p.T394T
c.1182C>T
3 papers
NM_000261.2
p.D395N
c.1183G>A
1 paper
NM_000261.2
p.E385A
c.1154A>C
4 papers
NM_000261.2
p.D395E
c.1185T>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."