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

3 papers

NM_001008212.2

p.L114P

c.341T>C

Surrounding Variants

1 paper

NM_001008212.2

p.K113N

c.339A>T

8 papers

NM_001008212.2

p.G112G

c.336A>G

1 paper

NM_001008212.2

p.G116R

c.346G>A

7 papers

NM_001008212.2

p.G116G

c.348G>C

2 papers

NM_001008212.2

p.L111R

c.332T>G

1 paper

NM_001008212.2

p.S118T

c.352T>A

1 paper

NM_001008212.2

p.S118P

c.352T>C

1 paper

NM_001008212.2

p.E119K

c.355G>A

2 papers

NM_001008212.2

p.E119*

c.355G>T

1 paper

NM_001008212.2

p.E109V

c.326A>T

3 papers

NM_001008212.2

p.R120G

c.358A>G

2 papers

NM_001008212.2

p.K108delFs

c.324delG