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.C8S

c.22T>A

Surrounding Variants

1 paper

NM_001008212.2

p.L6insFs

c.18dupC

1 paper

NM_001008212.2

p.L6I

c.16C>A

1 paper

NM_001008212.2

p.T10I

c.29C>T

3 papers

NM_001008212.2

p.P5L

c.14C>T

1 paper

NM_001008212.2

p.K12_E13delFs

c.34_37del4

7 papers

NM_001008212.2

p.H3Y

c.7C>T

1 paper

NM_001008212.2

p.E13G

c.38A>G

1 paper

NM_001008212.2

p.S2S

c.6C>G

1 paper

NM_001008212.2

p.S2Fs

c.5delinsGTFs

2 papers

NM_001008212.2

p.S2F

c.5C>T

1 paper

NM_001008212.2

p.E13D

c.39G>C

1 paper

NM_001008212.2

p.E13D

c.39G>T