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

1 paper

NM_001008212.2

p.T34T

c.102G>C

Surrounding Variants

12 papers

NM_001008212.2

p.T34T

c.102G>A

2 papers

NM_001008212.2

p.D33E

c.99C>A

2 papers

NM_001008212.2

p.D33E

c.99C>G

1 paper

NM_001008212.2

p.T34_P37del4

c.100_110del12

1 paper

NM_001008212.2

p.D33G

c.98A>G

1 paper

NM_001008212.2

p.D33H

c.97G>C

1 paper

NM_001008212.2

p.T36T

c.108C>T

1 paper

NM_001008212.2

p.L32L

c.96G>A

1 paper

NM_001008212.2

p.L32P

c.95T>C

1 paper

NM_001008212.2

p.E38K

c.112G>A

1 paper

NM_001008212.2

p.P30S

c.88C>T

1 paper

NM_001008212.2

p.L40L

c.120G>A