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.C555F

c.1664G>T

Surrounding Variants

1 paper

NM_001008212.2

p.P556H

c.1667C>A

1 paper

NM_001008212.2

p.S554F

c.1661C>T

1 paper

NM_001008212.2

p.K557E

c.1669A>G

14 papers

NM_001008212.2

p.K557T

c.1670A>C

4 papers

NM_001008212.2

p.K557R

c.1670A>G

1 paper

NM_001008212.2

p.K557N

c.1671G>C

1 paper

NM_001008212.2

p.K557N

c.1671G>T

1 paper

NM_001008212.2

p.C558_G559insC

c.1672_1676ins3

2 papers

NM_001008212.2

p.P551L

c.1652C>T

3 papers

NM_001008212.2

p.R548Q

c.1643G>A

2 papers

NM_001008212.2

p.R548W

c.1642C>T

1 paper

NM_001008212.2

p.P563L

c.1688C>T