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.S96delFs

c.287delC

Surrounding Variants

1 paper

NM_001205254.2

p.G103S

c.307G>A

1 paper

NM_001205254.2

p.G103C

c.307G>T

1 paper

NM_001205254.2

p.G103A

c.308G>C

4 papers

NM_001205254.2

p.S85fs

c.253_254fs

5 papers

NM_001205254.2

p.A84delFs

c.252delC

1 paper

NM_001205254.2

p.G108E

c.323G>A

1 paper

NM_001205254.2

p.G108G

c.324A>T

1 paper

NM_001205254.2

p.F80Y

c.239T>A

1 paper

NM_001205254.2

p.G121_G123ins1

c.363_368dup6

1 paper

NM_001205254.2

p.Y122_Y128del0

c.366_383del18

1 paper

NM_001205254.2

p.I72T

c.215T>C

1 paper

NM_001205254.2

p.G121fs

c.361_362fs