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.K80N

c.240G>C

Surrounding Variants

3 papers

NM_001008212.2

p.E81K

c.241G>A

1 paper

NM_001008212.2

p.E81*

c.241G>T

1 paper

NM_001008212.2

p.E82_R83delFs

c.244_248del5

1 paper

NM_001008212.2

p.Q79R

c.236A>G

1 paper

NM_001008212.2

p.E82fs

c.244_245fs

4 papers

NM_001008212.2

p.Q79*

c.235C>T

1 paper

NM_001008212.2

p.E82D

c.246A>C

1 paper

NM_001008212.2

p.E82D

c.246A>T

1 paper

NM_001008212.2

p.R83S

c.247C>A

1 paper

NM_001008212.2

p.R83G

c.247C>G

10 papers

NM_001008212.2

p.R83C

c.247C>T

1 paper

NM_001008212.2

p.K78*

c.232A>T