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

225 papers

NM_001008212.2

p.E50K

c.148G>A

Surrounding Variants

1 paper

NM_001008212.2

p.E50Q

c.148G>C

3 papers

NM_001008212.2

p.T49T

c.147C>T

2 papers

NM_001008212.2

p.N51T

c.152A>C

1 paper

NM_001008212.2

p.N51I

c.152A>T

2 papers

NM_001008212.2

p.L48L

c.144G>A

3 papers

NM_001008212.2

p.L48L

c.144G>T

2 papers

NM_001008212.2

p.L48P

c.143T>C

1 paper

NM_001008212.2

p.L48V

c.142C>G

1 paper

NM_001008212.2

p.L47L

c.141C>T

1 paper

NM_001008212.2

p.Q53_L54insFs

c.158_161dup4

2 papers

NM_001008212.2

p.L47F

c.139C>T

3 papers

NM_001008212.2

p.E46D

c.138G>C