Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L486F

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
16 papers
NM_000261.2
p.L486F
c.1456C>T
Surrounding Variants
1 paper
NM_000261.2
p.L486P
c.1457T>C
1 paper
NM_000261.2
p.K484Q
c.1450A>C
3 papers
NM_000261.2
p.A488V
c.1463C>T
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
8 papers
NM_000261.2
p.E483*
c.1447G>T
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
23 papers
NM_000261.2
p.P481L
c.1442C>T
5 papers
NM_000261.2
p.P481R
c.1442C>G
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