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

10 papers

NM_001008212.2

p.L500P

c.1499T>C

Surrounding Variants

1 paper

NM_001008212.2

p.K501R

c.1502A>G

1 paper

NM_001008212.2

p.V498D

c.1493T>A

1 paper

NM_001008212.2

p.A497G

c.1490C>G

1 paper

NM_001008212.2

p.N503K

c.1509T>A

1 paper

NM_001008212.2

p.Q495*

c.1483C>T

10 papers

NM_001008212.2

p.L494W

c.1481T>G

1 paper

NM_001008212.2

p.L492R

c.1475T>G

2 papers

NM_001008212.2

p.G509R

c.1525G>A

2 papers

NM_001008212.2

p.G509R

c.1525G>C

1 paper

NM_001008212.2

p.G510A

c.1529G>C

1 paper

NM_001008212.2

p.E490K

c.1468G>A

1 paper

NM_001008212.2

p.K489R

c.1466A>G