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

5 papers

NM_001205254.2

p.Y398D

c.1192T>G

Surrounding Variants

1 paper

NM_001205254.2

p.Y398F

c.1193A>T

1 paper

NM_001205254.2

p.T400A

c.1198A>G

2 papers

NM_001205254.2

p.E394fs

c.1180_1181fs

5 papers

NM_001205254.2

p.Y402D

c.1204T>G

1 paper

NM_001205254.2

p.Y402F

c.1205A>T

2 papers

NM_001205254.2

p.E394delFs

c.1180delG

1 paper

NM_001205254.2

p.T403A

c.1207A>G

2 papers

NM_001205254.2

p.T404A

c.1210A>G

3 papers

NM_001205254.2

p.S390*

c.1169C>A

3 papers

NM_001205254.2

p.S390*

c.1169C>G

4 papers

NM_001205254.2

p.G406G

c.1218C>T

1 paper

NM_001205254.2

p.E407fs

c.1219_1220fs