Varaico: Literature-Extracted Genetic Variants

OCLN

155 papers

RefSeq Summary

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a caus...

Pfam Domains

MARVELaa 57–263UCSCMembrane-associating domain

Occludin_ELLaa 420–519UCSCOccludin homology domain

Gene Aliases

HGNC Name

occludin

HGNC Alias Symbol

PPP1R115

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001205254.2

p.P24delFs

c.72delA

Surrounding Variants

3 papers

NM_001205254.2

p.P24A

c.70C>G

1 paper

NM_001205254.2

p.S25C

c.73A>T

2 papers

NM_001205254.2

p.K18I

c.53A>T

1 paper

NM_001205254.2

p.G30delFs

c.90delT

1 paper

NM_001205254.2

p.V35I

c.103G>A

1 paper

NM_001205254.2

p.V35L

c.103G>C

1 paper

NM_001205254.2

p.R36L

c.107G>T

1 paper

NM_001205254.2

p.M38V

c.112A>G

1 paper

NM_001205254.2

p.L39delFs

c.115delC

1 paper

NM_001205254.2

p.Q41E

c.121C>G

1 paper

NM_001205254.2

p.A43P

c.127G>C

1 paper

NM_001205254.2

p.F55S

c.164T>C