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

1–12 of 730 variants

225 papers

NM_001008212.2

p.E50K

c.148G>A

171 papers

NM_001008212.2

p.E478G

c.1433A>G

149 papers

NM_001008212.2

p.M98K

c.293T>A

90 papers

NM_001008212.2

p.Q398*

c.1192C>T

88 papers

NM_001008212.2

p.R545Q

c.1634G>A

49 papers

NM_001008212.2

p.H486R

c.1457A>G

38 papers

NM_001008212.2

p.L231insFs

c.691_692insAG

34 papers

NM_001008212.2

p.H26D

c.76C>G

34 papers

NM_001008212.2

p.D474N

c.1420G>A

30 papers

NM_001008212.2

p.E322K

c.964G>A

29 papers

NM_001008212.2

p.R96L

c.287G>T

26 papers

NM_001008212.2

p.Q314L

c.941A>T