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.A64P

c.190G>C

Surrounding Variants

2 papers

NM_001008212.2

p.A64S

c.190G>T

1 paper

NM_001008212.2

p.Q63R

c.188A>G

1 paper

NM_001008212.2

p.Q63L

c.188A>T

1 paper

NM_001008212.2

p.M65insFs

c.193_194ins4

2 papers

NM_001008212.2

p.Q63K

c.187C>A

3 papers

NM_001008212.2

p.M65T

c.194T>C

3 papers

NM_001008212.2

p.K66R

c.197A>G

1 paper

NM_001008212.2

p.N61insFs

c.181_182ins10

1 paper

NM_001008212.2

p.N61D

c.181A>G

1 paper

NM_001008212.2

p.G67E

c.200G>A

1 paper

NM_001008212.2

p.R68*

c.202A>T

1 paper

NM_001008212.2

p.N61insFs

c.181_182ins8