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.E259D

c.777A>T

Surrounding Variants

1 paper

NM_001008212.2

p.E259D

c.777A>C

1 paper

NM_001008212.2

p.R260fs

c.778_779fs

1 paper

NM_021980.4

p.R260Splc

c.779+1G>A

1 paper

NM_001008212.2

p.K258E

c.772A>G

1 paper

NM_001008212.2

p.R260Splc

c.779+8A>G

1 paper

NM_001008212.2

p.K255R

c.764A>G

1 paper

NM_001008212.2

p.L254H

c.761T>A

1 paper

NM_001008212.2

p.R260Splc

c.779+20G>A

1 paper

NM_001008212.2

p.V252I

c.754G>A

1 paper

NM_001008212.2

p.R249_L250delFs

c.746_750del5

1 paper

NM_001008212.2

p.R249_L250del2

c.745_749del6

1 paper

NM_001008212.2

p.N244_E248del5

c.730_743del15