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.S297R

c.891C>G

Surrounding Variants

1 paper

NM_001008212.2

p.S297R

c.891C>A

1 paper

NM_001008212.2

p.S297R

c.889A>C

1 paper

NM_001008212.2

p.V299delFs

c.896delT

2 papers

NM_001008212.2

p.V299A

c.896T>C

1 paper

NM_001008212.2

p.V295V

c.885T>C

2 papers

NM_001008212.2

p.E300K

c.898G>A

1 paper

NM_001008212.2

p.V295I

c.883G>A

13 papers

NM_001008212.2

p.V295F

c.883G>T

1 paper

NM_001008212.2

p.T294_V295Splc

c.883-1G>A

1 paper

NM_001008212.2

p.A301S

c.901G>T

2 papers

NM_001008212.2

p.A301G

c.902C>G

1 paper

NM_001008212.2

p.A301V

c.902C>T