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

3 papers

NM_001008212.2

p.L72F

c.214C>T

Surrounding Variants

1 paper

NM_001008212.2

p.E71E

c.213G>A

1 paper

NM_001008212.2

p.L72P

c.215T>C

1 paper

NM_001008212.2

p.E71K

c.211G>A

1 paper

NM_001008212.2

p.S73P

c.217T>C

1 paper

NM_001008212.2

p.S73fs

c.217_218fs

2 papers

NM_001008212.2

p.S73L

c.218C>T

2 papers

NM_001008212.2

p.E70K

c.208G>A

1 paper

NM_001008212.2

p.E70delFs

c.209delA

1 paper

NM_001008212.2

p.A74A

c.222C>T

1 paper

NM_001008212.2

p.F69L

c.205T>C

1 paper

NM_001008212.2

p.T76delFs

c.226delA

1 paper

NM_001008212.2

p.T76_E77delFs

c.226_230del5