Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A488V

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
3 papers
NM_000261.2
p.A488V
c.1463C>T
Surrounding Variants
4 papers
NM_000261.2
p.A488A
c.1464C>T
1 paper
NM_000261.2
p.W489R
c.1465T>C
1 paper
NM_000261.2
p.W489R
c.1465T>A
1 paper
NM_000261.2
p.W489_D490insFs
c.1467_1468insC
1 paper
NM_000261.2
p.W489fs
c.1465_1466fs
2 papers
NM_000261.2
p.D490Y
c.1468G>T
1 paper
NM_000261.2
p.L486P
c.1457T>C
16 papers
NM_000261.2
p.L486F
c.1456C>T
1 paper
NM_000261.2
p.N491S
c.1472A>G
1 paper
NM_000261.2
p.K484Q
c.1450A>C
1 paper
NM_000261.2
p.N493H
c.1477A>C
8 papers
NM_000261.2
p.E483*
c.1447G>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."