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.L100S

c.299T>C

Surrounding Variants

1 paper

NM_001008212.2

p.L100F

c.300G>C

1 paper

NM_001008212.2

p.L100F

c.300G>T

2 papers

NM_001008212.2

p.S101G

c.301A>G

2 papers

NM_001008212.2

p.A99P

c.295G>C

1 paper

NM_001008212.2

p.A99_L100ins6

c.295_299ins18

1 paper

NM_001008212.2

p.A99S

c.295G>T

1 paper

NM_001008212.2

p.H102_E110del9

c.304_329del27

8 papers

NM_001008212.2

p.M98I

c.294G>A

1 paper

NM_001008212.2

p.H102_E103delFs

c.306_307delTG

149 papers

NM_001008212.2

p.M98K

c.293T>A

1 paper

NM_001008212.2

p.H102Q

c.306T>G

2 papers

NM_001008212.2

p.L97V

c.289C>G