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.V306L

c.916G>T

Surrounding Variants

1 paper

NM_001008212.2

p.V306L

c.916G>C

1 paper

NM_001008212.2

p.V306fs

c.916_917fs

4 papers

NM_001008212.2

p.V306_S308delFs

c.918_922del5

1 paper

NM_001008212.2

p.V306_T307del2

c.916_920del6

1 paper

NM_001008212.2

p.T307fs

c.919_920fs

2 papers

NM_001008212.2

p.T307fs

c.919_920fs

3 papers

NM_001008212.2

p.L304F

c.910C>T

8 papers

NM_001008212.2

p.N303K

c.909C>A

8 papers

NM_001008212.2

p.N303K

c.909C>G

1 paper

NM_001008212.2

p.S308C

c.923C>G

1 paper

NM_001008212.2

p.L302delFs

c.906delG

2 papers

NM_001008212.2

p.A301G

c.902C>G