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.V308M

c.922G>A

Surrounding Variants

1 paper

NM_001205254.2

p.Y315F

c.944A>T

1 paper

NM_001205254.2

p.A324T

c.970G>A

5 papers

NM_001205254.2

p.S327delFs

c.981delC

3 papers

NM_001205254.2

p.N328fs

c.982_983fs

1 paper

NM_001205254.2

p.E339K

c.1015G>A

4 papers

NM_001205254.2

p.P346Splc

c.1037+1G>A

6 papers

NM_001205254.2

p.P346Splc

c.1037+5G>A

2 papers

NM_001205254.2

p.P346Splc

c.1037+5G>C

1 paper

NM_001205254.2

p.W297_V298Splc

c.892-1389T>C