Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A397V

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.A397V
c.1190C>T
Surrounding Variants
1 paper
NM_000261.2
p.E396ins0
c.1186_1188dupGAG
2 papers
NM_000261.2
p.A397D
c.1190C>A
8 papers
NM_000261.2
p.E396D
c.1188G>T
1 paper
NM_000261.2
p.E396_A397ins2
c.1188_1189ins6
8 papers
NM_000261.2
p.E396D
c.1188G>C
7 papers
NM_000261.2
p.E396E
c.1188G>A
42 papers
NM_000261.2
p.K398R
c.1193A>G
3 papers
NM_000261.2
p.E396ins2
c.1187_1188ins6
1 paper
NM_000261.2
p.E396K
c.1186G>A
4 papers
NM_000261.2
p.D395E
c.1185T>G
4 papers
NM_000261.2
p.D395E
c.1185T>A
20 papers
NM_000261.2
p.G399V
c.1196G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."