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.Y172fs

c.514_515fs

Surrounding Variants

4 papers

NM_001205254.2

p.Y171*

c.513C>A

2 papers

NM_001205254.2

p.Y172insFs

c.514dupT

4 papers

NM_001205254.2

p.Y171*

c.513C>G

4 papers

NM_001205254.2

p.Y171insFs

c.512dupA

1 paper

NM_001205254.2

p.Y171fs

c.511_512fs

1 paper

NM_001205254.2

p.E164_M165insFs

c.492_493ins8

1 paper

NM_001205254.2

p.V160I

c.478G>A

1 paper

NM_001205254.2

p.V154M

c.460G>A

2 papers

NM_001205254.2

p.L153S

c.458T>C

1 paper

NM_001205254.2

p.M144_A145del0

c.430_435del6

1 paper

NM_001205254.2

p.G209D

c.626G>A

1 paper

NM_001205254.2

p.P134S

c.400C>T