Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D384A

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.D384A
c.1151A>C
Surrounding Variants
8 papers
NM_000261.2
p.D384G
c.1151A>G
5 papers
NM_000261.2
p.D384H
c.1150G>C
7 papers
NM_000261.2
p.D384N
c.1150G>A
7 papers
NM_000261.2
p.E385K
c.1153G>A
1 paper
NM_000261.2
p.E385A
c.1154A>C
2 papers
NM_000261.2
p.A386S
c.1156G>T
1 paper
NM_000261.2
p.A382V
c.1145C>T
1 paper
NM_000261.2
p.G387S
c.1159G>A
1 paper
NM_000261.2
p.L381S
c.1142T>C
9 papers
NM_000261.2
p.G387D
c.1160G>A
12 papers
NM_000261.2
p.D380G
c.1139A>G
51 papers
NM_000261.2
p.D380A
c.1139A>C
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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."