Varaico: Literature-Extracted Genetic Variants

OPTN

922 papers

RefSeq Summary

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus...

Pfam Domains

NEMOaa 37–104UCSCNF-kappa-B essential modulator NEMO

CC2-LZaa 408–507UCSCLeucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

zf_C2H2_10aa 551–576UCSCC2H2 type zinc-finger

Gene Aliases

HGNC Name

optineurin

HGNC Previous Symbol

GLC1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

88 papers

NM_001008212.2

p.R545Q

c.1634G>A

Surrounding Variants

1 paper

NM_001008212.2

p.R545R

c.1635G>A

1 paper

NM_001008212.2

p.W544*

c.1632G>A

1 paper

NM_001008212.2

p.W544*

c.1631G>A

1 paper

NM_001008212.2

p.Q547*

c.1639C>T

1 paper

NM_001008212.2

p.D543G

c.1628A>G

2 papers

NM_001008212.2

p.R548W

c.1642C>T

3 papers

NM_001008212.2

p.R548Q

c.1643G>A

1 paper

NM_001008212.2

p.D541V

c.1622A>T

1 paper

NM_001008212.2

p.E540V

c.1619A>T

1 paper

NM_001008212.2

p.E540Q

c.1618G>C

2 papers

NM_001008212.2

p.P551L

c.1652C>T

2 papers

NM_001008212.2

p.G538E

c.1613G>A