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.P24insFs

c.70dupC

Surrounding Variants

4 papers

NM_001008212.2

p.H26delFs

c.76delC

1 paper

NM_001008212.2

p.P24T

c.70C>A

1 paper

NM_001008212.2

p.P24fs

c.70_71fs

1 paper

NM_001008212.2

p.G23fs

c.67_68fs

13 papers

NM_001008212.2

p.G23*

c.67G>T

2 papers

NM_001008212.2

p.P25S

c.73C>T

1 paper

NM_001008212.2

p.N22H

c.64A>C

1 paper

NM_001008212.2

p.N22D

c.64A>G

1 paper

NM_001008212.2

p.P25L

c.74C>T

1 paper

NM_001008212.2

p.H26fs

c.76_77fs

34 papers

NM_001008212.2

p.H26D

c.76C>G

1 paper

NM_001008212.2

p.H26fs

c.76_77fs