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.D566H

c.1696G>C

Surrounding Variants

5 papers

NM_001008212.2

p.T567A

c.1699A>G

2 papers

NM_001008212.2

p.T567M

c.1700C>T

7 papers

NM_001008212.2

p.D564H

c.1690G>C

6 papers

NM_001008212.2

p.L568S

c.1703T>C

2 papers

NM_001008212.2

p.L568F

c.1704A>C

2 papers

NM_001008212.2

p.L568L

c.1704A>G

1 paper

NM_001008212.2

p.L568F

c.1704A>T

1 paper

NM_001008212.2

p.P563L

c.1688C>T

1 paper

NM_001008212.2

p.Q569H

c.1707G>C

1 paper

NM_001008212.2

p.Q569H

c.1707G>T

5 papers

NM_001008212.2

p.H571Q

c.1713C>A

5 papers

NM_001008212.2

p.H571Q

c.1713C>G