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

3 papers

NM_001008212.2

p.E227K

c.679G>A

Surrounding Variants

5 papers

NM_001008212.2

p.F226L

c.678C>A

5 papers

NM_001008212.2

p.F226L

c.678C>G

2 papers

NM_001008212.2

p.F226S

c.677T>C

1 paper

NM_001008212.2

p.F226C

c.677T>G

3 papers

NM_001008212.2

p.H228Y

c.682C>T

5 papers

NM_001008212.2

p.F226L

c.676T>C

1 paper

NM_001008212.2

p.Y225Y

c.675C>T

1 paper

NM_001008212.2

p.F226_H228del0

c.676_684del9

1 paper

NM_001008212.2

p.F226_E230del5

c.676_689del15

1 paper

NM_001008212.2

p.Y225F

c.674A>T

11 papers

NM_001008212.2

p.E229K

c.685G>A

1 paper

NM_001008212.2

p.E230delFs

c.688delG