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.N401_A403delFs

c.1202_1208del7

Surrounding Variants

1 paper

NM_001008212.2

p.N401fs

c.1201_1202fs

1 paper

NM_001008212.2

p.N401S

c.1202A>G

1 paper

NM_001008212.2

p.N401insFs

c.1202dupA

1 paper

NM_001008212.2

p.H400Y

c.1198C>T

1 paper

NM_001008212.2

p.E399_H400delins

c.1197_1198delinsGT

1 paper

NM_001008212.2

p.E399K

c.1195G>A

5 papers

NM_001008212.2

p.E399*

c.1195G>T

1 paper

NM_001008212.2

p.Q398R

c.1193A>G

1 paper

NM_001008212.2

p.Q398K

c.1192C>A

5 papers

NM_001008212.2

p.Q398E

c.1192C>G

90 papers

NM_001008212.2

p.Q398*

c.1192C>T

1 paper

NM_001008212.2

p.Q398del1

c.1192_1193delCAA