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.M144_A145del0

c.430_435del6

Surrounding Variants

1 paper

NM_001205254.2

p.P134S

c.400C>T

2 papers

NM_001205254.2

p.L153S

c.458T>C

1 paper

NM_001205254.2

p.V154M

c.460G>A

1 paper

NM_001205254.2

p.G130S

c.388G>A

1 paper

NM_001205254.2

p.G129R

c.385G>A

1 paper

NM_001205254.2

p.G129R

c.385G>C

1 paper

NM_001205254.2

p.Y128S

c.383A>C

1 paper

NM_001205254.2

p.V160I

c.478G>A

1 paper

NM_001205254.2

p.E164_M165insFs

c.492_493ins8

1 paper

NM_001205254.2

p.G123insFs

c.368dupG

1 paper

NM_001205254.2

p.Y122C

c.365A>G

1 paper

NM_001205254.2

p.G121fs

c.361_362fs