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

26 papers

NM_001008212.2

p.Q314L

c.941A>T

Surrounding Variants

1 paper

NM_001008212.2

p.E315_A316insT

c.943_947ins3

2 papers

NM_001008212.2

p.E315A

c.944A>C

2 papers

NM_001008212.2

p.E315G

c.944A>G

1 paper

NM_001008212.2

p.K311N

c.933G>C

1 paper

NM_001008212.2

p.K311N

c.933G>T

2 papers

NM_001008212.2

p.H317R

c.950A>G

1 paper

NM_001008212.2

p.T318R

c.953C>G

1 paper

NM_001008212.2

p.S308C

c.923C>G

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.T307fs

c.919_920fs

2 papers

NM_001008212.2

p.T307fs

c.919_920fs