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

2 papers

NM_001008212.2

p.F475V

c.1423T>G

Surrounding Variants

1 paper

NM_001008212.2

p.D474E

c.1422T>A

1 paper

NM_001008212.2

p.F475S

c.1424T>C

1 paper

NM_001008212.2

p.D474E

c.1422T>G

1 paper

NM_001008212.2

p.F475_H476delFs

c.1425_1426delTC

2 papers

NM_001008212.2

p.D474insFs

c.1421_1422insGT

1 paper

NM_001008212.2

p.D474_R482del0

c.1422_1445del24

34 papers

NM_001008212.2

p.D474N

c.1420G>A

1 paper

NM_001008212.2

p.D474H

c.1420G>C

1 paper

NM_001008212.2

p.H476R

c.1427A>G

4 papers

NM_001008212.2

p.S473A

c.1417T>G

1 paper

NM_001008212.2

p.A477V

c.1430C>T

1 paper

NM_001008212.2

p.C472S

c.1415G>C