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.S490A

c.1468T>G

Surrounding Variants

1 paper

NM_001205254.2

p.D492_Y493ins8

c.1474_1478ins24

1 paper

NM_001205254.2

p.C500S

c.1498T>A

1 paper

NM_001205254.2

p.C500S

c.1499G>C

2 papers

NM_001205254.2

p.K504N

c.1512G>C

2 papers

NM_001205254.2

p.K504N

c.1512G>T

1 paper

NM_001205254.2

p.M513_V514insT

c.1537_1541ins3

1 paper

NM_001205254.2

p.V514A

c.1541T>C

1 paper

NM_001205254.2

p.R519Fs

c.1555delinsAAFs

1 paper

NM_001205254.2

p.*523delFs

c.1567_1568delTA

2 papers

NM_001205254.2

p.A478V

c.1433C>T

2 papers

NM_001205254.2

p.A477V

c.1430C>T

2 papers

NM_001205254.2

p.E473A

c.1418A>C