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.F80Y

c.239T>A

Surrounding Variants

5 papers

NM_001205254.2

p.A84delFs

c.252delC

4 papers

NM_001205254.2

p.S85fs

c.253_254fs

1 paper

NM_001205254.2

p.I72T

c.215T>C

1 paper

NM_001205254.2

p.I67F

c.199A>T

1 paper

NM_001205254.2

p.R66L

c.197G>T

1 paper

NM_001205254.2

p.S96delFs

c.287delC

1 paper

NM_001205254.2

p.G63E

c.188G>A

4 papers

NM_001205254.2

p.W58fs

c.172_173fs

1 paper

NM_001205254.2

p.G103S

c.307G>A

1 paper

NM_001205254.2

p.G103C

c.307G>T

5 papers

NM_001205254.2

p.W58_I65delFs

c.173_194del22

1 paper

NM_001205254.2

p.G103A

c.308G>C