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

8 papers

NM_001008212.2

p.E18V

c.53A>T

Surrounding Variants

1 paper

NM_001008212.2

p.E18E

c.54A>G

1 paper

NM_001008212.2

p.S17N

c.50G>A

1 paper

NM_001008212.2

p.S17G

c.49A>G

1 paper

NM_001008212.2

p.S17C

c.49A>T

1 paper

NM_001008212.2

p.P16P

c.48C>A

2 papers

NM_001008212.2

p.P16L

c.47C>T

8 papers

NM_001008212.2

p.P16A

c.46C>G

1 paper

NM_001008212.2

p.S15R

c.45C>G

1 paper

NM_001008212.2

p.S15I

c.44G>T

1 paper

NM_001008212.2

p.S15R

c.43A>C

1 paper

NM_001008212.2

p.N22H

c.64A>C

1 paper

NM_001008212.2

p.N22D

c.64A>G