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

1–12 of 141 variants

6 papers

NM_001205254.2

p.P346Splc

c.1037+5G>A

5 papers

NM_001205254.2

p.W58_I65delFs

c.173_194del22

5 papers

NM_001205254.2

p.A84delFs

c.252delC

5 papers

NM_001205254.2

p.F219S

c.656T>C

5 papers

NM_001205254.2

p.S327delFs

c.981delC

5 papers

NM_001205254.2

p.Y398D

c.1192T>G

5 papers

NM_001205254.2

p.Y402D

c.1204T>G

5 papers

NM_001205254.2

p.S490A

c.1468T>G

4 papers

NM_001205254.2

p.W58fs

c.172_173fs

4 papers

NM_001205254.2

p.S85fs

c.253_254fs

4 papers

NM_001205254.2

p.Y171insFs

c.512dupA

4 papers

NM_001205254.2

p.Y171*

c.513C>A