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.Q235delFs

c.703_704delCA

Surrounding Variants

12 papers

NM_001008212.2

p.Q235*

c.703C>T

1 paper

NM_001008212.2

p.S234N

c.701G>A

1 paper

NM_001008212.2

p.L237R

c.710T>G

1 paper

NM_001008212.2

p.L238M

c.712C>A

1 paper

NM_001008212.2

p.L231*

c.692T>A

1 paper

NM_001008212.2

p.L231*

c.692T>G

12 papers

NM_001008212.2

p.L231insFs

c.692_693insAG

1 paper

NM_001008212.2

p.L238P

c.713T>C

38 papers

NM_001008212.2

p.L231insFs

c.691_692insAG

1 paper

NM_001008212.2

p.E230G

c.689A>G

1 paper

NM_001008212.2

p.E229D

c.687G>C

1 paper

NM_001008212.2

p.E229D

c.687G>T