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.L325insFs

c.973dupC

Surrounding Variants

1 paper

NM_001008212.2

p.E324G

c.971A>G

1 paper

NM_001008212.2

p.E324Q

c.970G>C

30 papers

NM_001008212.2

p.E322K

c.964G>A

1 paper

NM_001008212.2

p.E322Q

c.964G>C

1 paper

NM_001008212.2

p.K328E

c.982A>G

1 paper

NM_001008212.2

p.R329fs

c.985_986fs

5 papers

NM_001008212.2

p.R329G

c.985A>G

1 paper

NM_001008212.2

p.R329fs

c.985_986fs

1 paper

NM_001008212.2

p.R329_L330delFs

c.986_990del5

1 paper

NM_001008212.2

p.L320P

c.959T>C

1 paper

NM_001008212.2

p.S321del1

c.961_963delAGC

1 paper

NM_001008212.2

p.R329_L330delFs

c.987_988delAC