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

49 papers

NM_001008212.2

p.H486R

c.1457A>G

Surrounding Variants

1 paper

NM_001008212.2

p.E488K

c.1462G>A

1 paper

NM_001008212.2

p.K484R

c.1451A>G

1 paper

NM_001008212.2

p.E488G

c.1463A>G

12 papers

NM_001008212.2

p.K489E

c.1465A>G

1 paper

NM_001008212.2

p.K489R

c.1466A>G

2 papers

NM_001008212.2

p.E483K

c.1447G>A

1 paper

NM_001008212.2

p.E490K

c.1468G>A

21 papers

NM_001008212.2

p.A481V

c.1442C>T

1 paper

NM_001008212.2

p.L492R

c.1475T>G

1 paper

NM_001008212.2

p.A480P

c.1438G>C

171 papers

NM_001008212.2

p.E478G

c.1433A>G

10 papers

NM_001008212.2

p.L494W

c.1481T>G