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.E109V

c.326A>T

Surrounding Variants

2 papers

NM_001008212.2

p.K108delFs

c.324delG

1 paper

NM_001008212.2

p.L107F

c.321G>C

1 paper

NM_001008212.2

p.L107F

c.321G>T

2 papers

NM_001008212.2

p.L111R

c.332T>G

1 paper

NM_001008212.2

p.L107V

c.319T>G

1 paper

NM_001008212.2

p.K106R

c.317A>G

8 papers

NM_001008212.2

p.G112G

c.336A>G

1 paper

NM_001008212.2

p.E105E

c.315G>A

1 paper

NM_001008212.2

p.E105_K106insFs

c.315_316insT

1 paper

NM_001008212.2

p.K113N

c.339A>T

3 papers

NM_001008212.2

p.L114P

c.341T>C

18 papers

NM_001008212.2

p.E103D

c.309G>C